Positive Family History Of Epilepsy Research Articles

Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort.

PCDH19-related epilepsy occurs predominantly in girls and is caused by pathogenic variant of the protocadherin-19 gene. The initial seizures usually develop in association with fever, begin on average at 15 months of age, and often occur in clusters. Autistic symptoms, intellectual disability, and sleep disturbance are often associated. In our retrospective, multicenter study, we reviewed clinical data of nine children with epilepsy genetically confirmed to be associated with PCDH19. In the Hungarian patient population aged 0-18 years, the prevalence of PCDH19-related epilepsy was found to be lower (1/100000 live births in females) than the reported international data (4-5/100000 live births in females). Four of our nine patients had positive family history of epilepsy (cousins, sister, and mother). We assessed brain anomalies in three patients (in one patient focal cortical dysplasia and left anterior cingulate dysgenesis, and in two children right or left hippocampal sclerosis) and in another three cases incidentally identified benign alterations on brain MRI were found. The first seizure presented as a cluster in seven out of nine children. In seven out of nine cases occurred status epilepticus. Six out of nine children had autistic symptoms and only one child had normal intellectual development. Seven of our patients were seizure free with combined antiseizure medication (ASM). The most effective ASMs were levetiracetam, valproate, and clobazam. The prevalence of PCDH19-related epilepsy is presumably underestimated because of the lack of widely performed molecular genetic evaluations. Molecular genetic testing including PCDH19 pathogenic variants is recommended for female patients with an onset of seizures before the age of 3 years.

Evaluating the Inheritance Risk: Epilepsy Prevalence among Offspring of Adults with Epilepsy in a Tertiary Referral Epilepsy Center.

While significant strides have been made in comprehending the pathophysiology and treatment of epilepsy, further investigation is warranted to elucidate the factors impacting its development and transmission, particularly within familial contexts. This study sought to explore the prevalence and risk factors associated with epilepsy in the offspring of patients with epilepsy who were treated at a tertiary epilepsy center. Adult patients with confirmed epilepsy (PWE) receiving outpatient care were consecutively enrolled, starting from January 2021 to January 2023. Data were recorded for various variables, including age, gender, epilepsy pathophysiology, cognitive impairment, and family history of epilepsy. Descriptive statistics, various statistical tests, and multivariate logistic regression analyses were employed to analyze the data. A total of 1456 PWE were included. Among them, 463 patients (31.8%) had children. Twenty-five patients had offspring diagnosed with epilepsy, representing a prevalence of 5.4%. Analysis of the offspring with epilepsy revealed older ages, a higher proportion of parents with idiopathic epilepsy, and a greater prevalence of a positive family history of epilepsy. Multivariate logistic regression analysis demonstrated a significant association between a family history of epilepsy and increased epilepsy risk in offspring. Genetic syndrome-immanent predisposition, advanced age, and a family history of epilepsy were identified as significant risk factors for epilepsy in offspring by means of this mono-center study.

Profile of adult -onset epilepsy in Zagazig university hospitals

BackgroundEpilepsy has many neurobiological consequences. This study aimed to identify the profile of adult patients with new onset epilepsy in our university hospitals as regarding clinical picture, etiology, cerebral imaging and electroencephalogram (EEG) correlation, comorbidities, management, drug therapy and seizure severity and quality of life. We recruited one hundred patients with adult onset epilepsy, and we assessed them clinically, radiologically, and electrophysiologically. We performed Liverpool Seizure Severity Scale (LSSS) to assess seizure severity and the Quality of Life In Epilepsy-10 Questionnaire (QOLIE-10) to assess quality of life of adult patients with new onset epilepsy.ResultsFifty-seven percent of the studied patients were males, and 43.0% were females with mean (± SD) of age was 52.83 (± 17.33), 13.0% of the studied patients had positive family history of epilepsy. 32.0% had focal epilepsy, and 68.0% had generalized epilepsy, 53% of patients had uncontrolled seizures, 49% of patients were on monotherapy, and 51.0% were on polytherapy. The mean (± SD) seizure frequency per month in the studied patients was 4.0 (± 3.15). Imaging abnormalities were found in 88% of studied patients. 43% of the studied patients had abnormal EEG. Post-traumatic epilepsy, focal cortical dysplasia and mesial temporal sclerosis were statistically significant higher in male patients than female patients. Arteriovenous malformations were significantly higher in females. Middle-aged adults’ group had hypertension more than other age groups, older adult age group had atrial fibrillation, coronary heart disease, diabetes mellitus and dyslipidemia more than other age groups. Young adults had migraine more than other age groups. Post-stroke epilepsy was higher in older adult and middle-aged adult groups more than young adult age group. Intracranial neoplasms were higher in older adult age group than other age groups. Patients with moderate, severe, and very severe LSSS score had significantly more frequent uncontrolled seizures, abnormal EEG and higher rate of polytherapy as compared to those with mild LSSS score. Patients with impaired quality of life had more seizure frequency, less seizure control, higher seizure severity, more EEG abnormalities and were mostly treated by AEDs polytherapy than those with average life quality.ConclusionsLevetiracetam was the most preferred drug for treating patients with adult-onset epilepsy (40%), whether used as monotherapy or in combination with other drugs. Seizure severity, and seizure frequency per month strongly impaired patients’ quality of life.

Exploring shared triggers and potential etiopathogenesis between migraine and idiopathic/genetic epilepsy: Insights from a multicenter tertiary-based study

IntroductionMigraine and epilepsy are two episodic disorders that share common pathophysiological mechanisms. The aim of our research was to assess the possible shared etiopathogenesis by analyzing the relations of headache, and seizure triggers, based on information obtained from a national cohort surveying the headache characteristics of 809 patients who had been diagnosed with idiopathic/genetic epilepsy. Material and methodsOur study utilized data from a multi-center, nationwide investigation of headaches in 809 patients with idiopathic/genetic epilepsy. Out of these, 508 patients reported complaints related to any type of headache (333 Migraines, 175 Headaches of other types). In the initial phase of the study encompassing the entire sample of 809 epilepsy patients, differences in seizure triggers were assessed between the migraine group (n = 333) and the non-migraine group (n = 476). Additionally, the subsequent part of the study pertains to a subgroup of the entire patient group, namely those affected by all types of headaches (n = 508), and differences in headache triggers were assessed among migraine patients (n = 333) and those with other types of headaches (n = 175). Similar differences were observed between epilepsy patients with and without a family history of epilepsy. ResultsThe most frequently reported seizure triggers in all I/GE group (n = 809) were stress (23%), sleep deprivation (22%) and fatigue (18%), respectively. The most frequently reported headache triggers in migraine patients were stress (31%), sleep deprivation (28%), and noise (26%). The occurrence of menstruation-triggered seizures in individuals with migraine and I/GE was found to be considerably higher than those without migraine. The most common triggers for seizure and headache among the individuals with a positive family history of epilepsy were determined to be light stimuli and sleep deprivation. ConclusionIn conclusion, our study provides valuable insights into the overlapping triggers including sleep patterns, stress levels, and menstrual cycles, etc. and potential shared etiology of migraine and I/GE. Recognizing these connections may facilitate the development of more precise therapeutic strategies and underscore the significance of adopting a holistic, multidisciplinary approach to the management of these intricate neurological conditions. Further research is essential to explore in greater depth the shared mechanisms underpinning these associations and their implications for clinical practice.

ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.

The self-limited (familial) epilepsies with onset in neonates or infants, formerly called benign familial neonatal and/or infantile epilepsies, are autosomal dominant disorders characterized by neonatal- or infantile-onset focal motor seizures and the absence of neurodevelopmental complications. Seizures tend to remit during infancy or early childhood and are therefore called "self-limited". A positive family history for epilepsy usually suggests the genetic etiology, but incomplete penetrance and de novo inheritance occur. Here, we review the phenotypic spectrum and the genetic architecture of self-limited (familial) epilepsies with onset in neonates or infants. Using an illustrative case study, we describe important clues in recognition of these syndromes, diagnostic steps including genetic testing, management, and genetic counseling.

Electroencephalographic findings in autistic non-epileptic children

Despite the well-acknowledged link between autism spectrum disorders (ASDs) and epilepsy, the prevalence and significance of electroencephalogram (EEG) changes in epileptic children in the absence of clinical seizures remains underdetermined. Aim. The primary goal of this study is to report the prevalence of EEG abnormalities in non-epileptic or pre-epileptic autistic children, investigate their association with a set of pre-determined risk factors, speculate on their significance, and direct future research efforts. Methods. A case-based sampling for children diagnosed with autism was done. Only patients without a history of epilepsy and those under the age of 15 were included. All patients underwent an EEG study. Children with abnormal EEG findings (case group) were compared to age-matched controls with normal EEG findings using a set of pre-determined factors. Results. A total of 38 patients were enrolled in our study, of whom 31.6% (n=12) had abnormal EEG readings. Of those, the presence of the following EEG abnormalities were noted – each being present in two patients: frontal sharp waves, frontal slowing, temporal slowing, bitemporal slowing, frontal sharp waves, and generalized sharp waves, Frontal intermittent rhythmic delta activity (FIRDA). Patients with abnormal EEG findings were more likely to have a positive family history of epilepsy and/or autism, with odd ratios of 28.05, and 12.62, accordingly. Conclusion. Aberrant brain connectivity patterns have been observed in non-epileptic ASD patients, and our findings support these findings. Furthermore, we believe that gender, mother's age, mode of delivery, and speech abnormalities could all have an impact on the EEG results. However, more research is needed to expand on these findings.

Difficult to treat absence seizures in children: A single-center retrospective study.

ObjectivesThe aim of this study was to analyse the characteristics of typical absence seizures (AS), myoclonic AS and AS with eyelid myoclonia in children and to find associations between these characteristics and difficult to treat absence seizures (DTAS).MethodsThis was a single-center retrospective study. Electronic health records of pediatric patients with a clinical diagnosis of AS treated at a single tertiary epilepsy center between January 2013 and June 2020 were reviewed. Clinical characteristics, seizure information, ASM, and therapeutic response of patients were recorded. All patients were followed up for at least 1 year. DTAS were defined as failure to achieve remission after treatment with at least 2 anti-seizure medications (ASM), regardless of whether remission was achieved eventually in the study period.ResultsData from 131 patients were available for analysis. Remission was achieved after the first ASM treatment in 81 (61.8%) patients, and eventually in 120 (91.6%) during the study period. Epilepsy was classified as DTAS in 18 (13.7%) patients. AS were more often difficult to treat in patients with myoclonic AS and AS with eyelid myoclonia (40.0%), compared with patients with typical AS (11.4%; p = 0.012, 95% CI 1.480–25.732). A positive family history of epilepsy (p = 0.046; 95% CI 1.021–8.572), a higher seizure frequency (p = 0.023, 95% CI 1.009–1.126) prior to ASM treatment, and longer time between seizure onset and treatment onset (p = 0.026; 95% CI 1.006–1.099) were also associated with DTAS.SignificanceOur study suggests that several clinical characteristics of AS are associated with DTAS. One of these was the time between onset of AS and initiation of ASM treatment, which can be shortened with better care, suggesting that early diagnosis and treatment may improve prognosis in pediatric patients with AS. These findings remain to be confirmed in larger prospective studies.

Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study

BackgroundMutations in the neuronal sodium voltage-gated channel, alpha subunit 1 (SCN1A) gene have been associated with epilepsy. We investigated the SCN1A-A3184G polymorphism among Egyptian children and adolescents with non-lesional epilepsy.MethodsA prospective case – control observational study was done in Mansoura University Children’s Hospital, Egypt including 326 children with non-lesional epilepsy (163 antiepileptic drugs (AEDs) resistant cases & 163 AEDs responders) and 163 healthy controls. One step real time polymerase chain reaction (PCR) was used for the molecular analysis. Student’s t-test, and Monto Carlo, chi-square and Mann–Whitney tests were used for the statistical analysis.ResultsAll study participants were matched as regards the age, sex and body weight (p = 0.07, 0.347 and 0.462, respectively). They had the (AA) and (AG) genotypes but not the (GG) variant. No significant differences were found between cases and controls regarding (AG) and (AA) genotypes and A- and G-alleles (p = 0.09 and 0.3, respectively). We did not find significant differences between AEDs responders and resistant cases regarding the studied genotypes and alleles (p = 0.61 and 0.746, respectively). In the resistant group, we observed significant associations between the (AG) genotype and seizure frequency (p = 0.05), the tonic-clonic seizure (p < 0.001), the younger age of first seizure attack (p = 0.03), abnormal electroencephalogram (EEG) (p < 0.001), the positive family history of epilepsy (p = 0.006), topiramate (p = 0.03) and valproic acid (p < 0.001), while the (AA) genotype was associated with carbamazepine (p = 0.03). While in AEDs responders, there were significant associations between the AG genotype and the abnormal EEG activity, levetiracetam and carbamazepine (p = 0.016, 0.028 and 0.02).ConclusionsThe SCN1A-A3184G genotypes and alleles were not associated with the epilepsy risk among Egyptian children. Significant associations were reported between the AG genotype and some predictors of refractory epilepsy.

Role of SCN2A c.56G/A Gene Polymorphism in Egyptian Children with Genetic Epilepsy with Febrile Seizure Plus.

Febrile Seizures (FS) are the most common seizures in children younger than 5 years. In the last decade, various coding and noncoding sequence variations of voltage-gated sodium channels SCN2A have been identified in patients with seizures, implying their genetic base. We aimed to evaluate the association between SCN2A c. G/A genetic polymorphism among Egyptian children with febrile seizure plus. The present cross-sectional study was carried out on 100 epileptic infants and children, attendants of the Neurology Unit, pediatric department, Menoufia University Hospitals (Group Ι). The patients were sub-classified into two groups, according to response to anti-epileptic treatment; Group Ι a (drug responder) and Group Ι b (drug-resistant). Evenly divided number of apparently healthy, age and gender-matched children were selected as controls (Group II). A complete history, throughout the systemic examination and radiological & metabolic assessment, whenever needed was provided, all participants were genotyped for SCN2A rs17183814 polymorphism by Restriction Fragment Length Polymorphism (PCR-RFLP). Both of A allele and AA, GA genotypes of SCN2A c. 56 G/A were detected more in patients with febrile seizure plus comparison to the control group with a statistically significant difference at frequencies of 17% and 11% and 12% respectively; OR (CI95%): 10.04 (3.49-28.87) and p <0.001. On classifying epileptic patients into 2 subgroups, carriers of SCN2A rs17183814 AA genotype tended to respond poorly to Anti-epileptic Drugs (AEDs). Moreover, multivariate analysis revealed that rs17183814 A allele and positive family history of epilepsy were considered the highest predicted risk factors for the development of epilepsy; p<0.05. SCN2A rs17183814 (A) allele was specifically associated with developing febrile seizure plus and could modulate the patient's response to anti-epileptic medications.

Usage of Genetic Panels in an Adult Epilepsy Clinic.

There is limited data on the utility, yield, and cost efficiency of genetic testing in adults with epilepsy. We aimed to describe the yield and utility of genetic panels in our adult epilepsy clinic. We performed a retrospective, cross-sectional study of all patients followed by an epileptologist at a Canadian tertiary care centre's epilepsy clinic between January 2016 and August 2021 for whom a genetic panel was ordered. A panel was generally ordered when the etiology was unknown or in the presence of a malformation of cortical development. We determined the yield of panel positivity and of confirmed genetic diagnoses. We also estimated the proportion of these diagnoses that were clinically actionable. In total, 164 panels were ordered in 164 patients. Most had refractory epilepsy (80%), and few had comorbid intellectual disability (10%) or a positive family history of epilepsy (11%). The yield of panel positivity was 11%. Panel results were uncertain 49% of the time and negative 40% of the time. Genetic diagnoses were confirmed in 7 (4.3%) patients. These genetic conditions involved the following genes: SCARB2, DEPDC5, PCDH19, LGI1, SCN1A, MT-TL1, and CHRNA7. Of the seven genetic diagnoses, 5 (71%) were evaluated to be clinically actionable. We report a lower diagnostic yield for genetic panels in adults with epilepsy than what has so far been reported. Although the field of the genetics of epilepsy is a fast-moving one and more data is required, our findings suggest that guidelines for genetic testing in adults are warranted.

Epilepsy and Child History in Dr. Jamal Ahmad Rashid Pediatric Teaching Hospital Sulaymaniyah /Iraq

Epilepsy is a chronic neurological illness that is the most prevalent severe brain problem worldwide .The purpose of this research is to determine the importance of certain risk variables for epilepsy in children in Sulaimani City, such as age, gender, head trauma, nervous system infectious diseases including meningitis and unusual perinatal history, low birth weight, neonate respiratory failure, neonatal seizure, socioeconomic status, as well as parent consanguinity. This research was created based on 104 cases (where 51 of the patients were male, while 53 of the patients were female) among the inpatient and outpatient neurology unit of Dr. Jamal Ahmad Rashid Pediatric teaching Hospital from 20/12/2020 to 29/4/2021 . In this research, all the children were evaluated, as well as their medical &amp; personal information were collected .A relation between the phenomenon of epilepsy with numerous risk factors were made; the ratio was calculated to determine the essential variables linked with epilepsy. Data was collected through interviewing of the patients then analyzed through the application statistical analysis descriptive. Results: age, head trauma, gender, febrile, positive family history for epilepsy, unusual perinatal history, and neonatal infection has been shown to have a statistically significant link to epilepsy. Conclusion: The majority of the samples was aged between six to ten while most of them were the middle child of their families. The results of survey also showed that most of the children were diagnosed between ages one to five while most of the samples have a generalized seizure. On the other hand, there was a statistical significant association between febrile convulsion and family history of epilepsy depending.&#x0D; Recommendation: Health staff (maternity staff) should not be excessively forced to pull the child's delivery. Informing the child's parents about the disease so that they do not become worried about any neurological disorders, our recommendation for staff working neurology field neurologist when such child enter the hospital immediately and quickly and get the necessary treatment.

Genetic-cellular epilepsy: Clues to diagnosing newborns with neonatal seizures

ObjectiveThe aim of this study was to analyse clinical characteristics of newborns with genetic-cellular epilepsy (GCE) to compare them to those of newborns with seizures with other aetiologies and elucidate clues to the diagnosis of GCE. MethodsThis retrospective single-centre study analysed data from an 8-year cohort of newborns with seizures from 2010-2017. Clinical, neurophysiological, laboratory, and imaging data and outcomes of children with GCE were compared to those of newborns with seizures with other aetiologies. ResultsA total of 112 newborns (N = 68; 61% boys) were included. Hypoxic-ischaemic encephalopathy (N = 42; 29%) was the most common seizure aetiology; GCE (with pathogenic variants KCNQ2, KCNQ3, SCN2A, TBC1D24, CHD2, and STXBP) was diagnosed in 9 (6%). The group of newborns with GCE significantly differed from the group with seizures with other aetiologies in terms of family history of epilepsy (p = 0.000), neonatal epileptic status (NES) (p = 0.007), normal imaging studies (p = 0.000), and outcomes (p = 0.034), but did not differ regarding the type and age of seizure onset, number of antiepileptic drugs administered, and EEG results.Positive family history of epilepsy (p = 0.027), presence of NES (p = 0.041), and normal imaging studies (p = 0.002) were most indicative of the diagnosis of GCE. Probability of GCE with this combination was 0.92. ConclusionIn a heterogenous group of newborns with seizures, a positive family history of epilepsy, presence of NES, and normal imaging studies were most indicative of the diagnosis of GCE.

Risk factors for developing epilepsy in children with cerebral pals

Aim. To identify the most important risk factors affecting the development of epilepsy in children with cerebral palsy.&#x0D; Methods. The study included 160 cerebral palsy patients with and without epilepsy who received treatment at the Baku Children's Neurological Hospital. The patients were divided into 2 groups. The first group consisted of 110 (68.7%) patients with cerebral palsy and epilepsy, and the second group consisted of 50 (31.3%) patients with cerebral palsy. The age of children ranged from 1 to 14 years. Statistical data processing was performed by using the SPSS software version 16.0. The Chi-square test was used to compare categorical measurements. T-test for independent groups was used for comparison between groups of continuous measurements. Binary logistic regression was used for determining the risk factors. In all tests, the level of statistical significance was set at p 0.05.&#x0D; Results. There was no significant difference in age and gender distribution between groups (p=0.492 and p=0.818, respectively). 10 (9.1%) children in the main group had a positive family history of epilepsy (odds ratio 8.08, p=0.028). Neonatal seizures were observed in 25 (22.7%) children in the main group and 3 (6%) children in the control group (odds ratio 4.4, p=0.010). The presence of infection during pregnancy in the mother was found in both the main (39.1%) and control (20%) groups (odds ratio 2.6, p=0.018). Level IV of the Gross Motor Function Classification System (GMFCS) was the most frequent among patients with epilepsy (odds ratio 12.8; p=0.035). The incidence rate of epilepsy among cerebral palsy patients was 68.7%. The mean age of onset of seizures was 19.226.6 months. The most frequent epileptic seizures (55.5%) occurred in spastic quadriplegic cerebral palsy.&#x0D; Conclusion. The presence of a positive family history of epilepsy, neonatal seizures, maternal infection during pregnancy and severe GMFCS level were identified as factors for the development of epilepsy in patients with cerebral palsy; premature birth, presence of hypoxic-ischemic injury, low birth weight, consanguineous marriage, multiple pregnancies, or gender were not identified as risk factors for the development of epilepsy in children.

Post-Surgical Outcome and Its Determining Factors in Patients Operated on With Focal Cortical Dysplasia Type II-A Retrospective Monocenter Study.

Purpose: Focal cortical dysplasias (FCDs) are a frequent cause of drug-resistant focal epilepsies. These lesions are in many cases amenable to epilepsy surgery. We examined 12-month and long-term post-surgical outcomes and its predictors including positive family history of epilepsy.Methods: Twelve-month and long-term outcomes regarding seizure control after epilepsy surgery in patients operated on with FCD type II between 2002 and 2019 in the Epilepsy Center of Bonn were evaluated based on patient records and telephone interviews.Results: Overall, 102 patients fulfilled the inclusion criteria. Seventy-one percent of patients at 12 months of follow-up (FU) and 54% of patients at the last available FU (63 ± 5.00 months, median 46.5 months) achieved complete seizure freedom (Engel class IA), and 84 and 69% of patients, respectively, displayed Engel class I outcome. From the examined variables [histopathology: FCD IIA vs. IIB, lobar lesion location: frontal vs. non-frontal, family history for epilepsy, focal to bilateral tonic–clonic seizures (FTBTCS) in case history, completeness of resection, age at epilepsy onset, age at surgery, duration of epilepsy], outcomes at 12 months were determined by interactions of age at onset, duration of epilepsy, age at surgery, extent of resection, and lesion location. Long-term post-surgical outcome was primarily influenced by the extent of resection and history of FTBTCS. Positive family history for epilepsy had a marginal influence on long-term outcomes only.Conclusion: Resective epilepsy surgery in patients with FCD II yields very good outcomes both at 12-month and long-term follow-ups. Complete lesion resection and the absence of FTBTCS prior to surgery are associated with a better outcome.

Epilepsy with eyelid myoclonias (Jeavons syndrome): An electro-clinical study of 40 patients from childhood to adulthood

PurposeTo describe the typical and atypical clinical and electroencephalographic (EEG) features of 40 patients with Jeavons syndrome (JS). MethodRetrospective analysis from two French tertiary centers. ResultsForty patients were enrolled (31 females and 9 males; sex ratio F/M = 3.44; mean age at epilepsy onset: 6.2 ± 3.4 years [range: 1–15 years]). A positive family history of generalized genetic epilepsy was reported by 13 patients (32.5 %). Eyelid myoclonias with or without absence were the seizure onset in 29 patients (72.5 %), and generalized tonic-clonic seizures in 11 (27.5 %). Over the course of the disease, all had absences. Intellectual disability and psychiatric disorders were reported in 14 (35 %) and 18 patients (45 %), respectively. Focal EEG abnormalities were observed in 65 % of patients, with a posterior (57.7 %) or anterior (30 %) distribution. Generalized EEG discharges were identified in 37 patients (92.5 %). Epileptiform abnormalities were activated during NREM sleep and increased upon awakening. Response to intermittent light stimulation (ILS) was observed in 34 patients (85 %), with an unusual pattern of epileptiform abnormalities at the same frequency of the flashes in 20 patients. Patients with all seizure types were more likely to have this response (p = 0.017). ConclusionJS is a lifelong genetic epileptic syndrome with onset in childhood, female preponderance, and a positive family history of epilepsy in one-third of the cases. Focal EEG abnormalities are frequent. Response to ILS appears different from other photosensitive syndromes, with an unusual pattern of photo-induced abnormal synchronization. Intellectual disability and psychiatric disorders are not rare.

Demographic and Clinical Characteristics of Epilepsy in Childhood: A Prospective Cross Sectional Study from Sudan

Background: Epilepsy is a common neurological disorder affecting around 1% of children. The incidence in Sudan is likely to be higher given the high rate of genetic disorders related to consanguity and acquired disorders caused by CNS infection and birth injury. Epilepsy can be idiopathic or non-idiopathic, symptomatic epilepsy indicates a known cause while cryptogenic epilepsy implies a presumed unknown cause. Objective: To understand the demographic and clinical characteristics of epilepsy in children in the setting of a tertiary epilepsy clinic in Khartoum, Sudan. Methods: This is a hospital-based cross sectional study recruiting patients with epilepsy attending a tertiary pediatric neurology clinic. All patients attending the clinic in the 6 month period were included. Data was collected by medical students and was analyzed on IBM SPSS Version 20.0 in a descriptive fashion. Results: 284 Children were recruited. The mean age for children with epilepsy was 5.74 (range 0-12 Years). Females constituted 59.9%; while 94.7% of patients were of low socioeconomic status. The most common type of seizures found were generalized tonic clinic at 51.8% (147/284), followed by focal seizures at 21.1% (60/284). 71% of our patients (201/284) had no identifiable cause (idiopathic), while 29% were non-idiopathic. Of the non-idiopathic group; 41% were due to congenital anomalies, followed by HIE at 24.1%, infections at 16.9% trauma at 10.8% and tumors at 7.2%. Only 18.3% (52/284) had a positive family history of epilepsy. Conclusions: There appears to be a higher incidence of epilepsy in Children with low socio – economic status with a slight female predominance. The incidence of idiopathic epilepsy appears to be similar to inter-national figures. We recommend broader community based and long-term studies for better understanding of epilepsy in Sudan.

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families: A possible gradient in severity?

Variants of GATOR1-genes represent a recognised cause of focal cortical dysplasia (FCD), the most common structural aetiology in paediatric drug-resistant focal epilepsy. Reports on familial cases of GATOR1-associated FCD are limited, especially with respect to epilepsy surgery outcomes. We present phenotypical manifestations of four unrelated patients with drug-resistant focal epilepsy, FCD and a first-degree relative with epilepsy. All patients underwent targeted gene panel sequencing as a part of the presurgical work up. Literature search was performed to compare our findings to previously published cases. The children (probands) had a more severe phenotype than their parents, including drug-resistant epilepsy and developmental delay, and they failed to achieve seizure freedom post-surgically. All patients had histopathologically confirmed FCD (types IIa, IIb, Ia). In Patient 1 and her affected father, we detected a known pathogenic NPRL2 variant. In patients 2 and 3 and their affected parents, we found novel likely pathogenic germline DEPDC5 variants. In family 4, we detected a novel variant in NPRL3. We identified 15 additional cases who underwent epilepsy surgery for GATOR1-associated FCD, with a positive family history of epilepsy in the literature; in 8/13 tested, the variant was inherited from an asymptomatic parent. The presented cases displayed a severity gradient in phenotype with children more severely affected than the parents. Although patients with GATOR1-associated FCD are considered good surgical candidates, post-surgical seizure outcome was poor in our familial cases, suggesting that accurate identification of the epileptogenic zone may be more challenging in this subgroup of patients.

Childhood Epilepsy with Centrotemporal Spikes: Clinical and Neuropsychological Outcomes 5 Years after Remission.

Although specific neuropsychological deficits have been recognized during the active phase of epilepsy with centrotemporal spikes (ECTS), the natural cognitive and neuropsychological history after remission has not been elucidated so far. We evaluated the natural cognitive and neuropsychological outcomes five years after disease remission and investigated possible predictors of long-term outcome among socio-demographic and electro-clinical variables. We performed an observational cross-sectional study. Electro-clinical characteristics during the active phase of epilepsy, as well as antiepileptic treatment and premorbid neurodevelopmental concerns were reviewed for 70 patients. At least five years after epilepsy remission, all patients were contacted, and 46 completed a structured questionnaire about patients’ current education and academic skills, general health, and parents’ socio-economic status. Among them, 23 patients underwent an ad hoc cognitive and neuropsychological protocol and emotional-behavioral assessment. Chi-square tests and t-tests were carried out to define the role of putative predictors of neuropsychological outcomes. Mean cognitive and neuropsychological performances appeared to be overall adequate, except for the dictation. Positive family history for epilepsy (p = 0.01769) and familial socioeconomic status (mother’s schooling (p = 0.04169), father’s schooling (p = 0.01939), mother’s income (p = 0.0262), father’s income (p = 0.01331)) were identified as predictors of outcomes. Our data suggest that ECTS with typical electro-clinical features depicts an overall preserved cognitive and neuropsychological long-term outcome. We suggest particular attention should be paid to patients with socio-economic disadvantage and familial history of epilepsy, as they may experience worse neurocognitive post-morbid performances.

Quality of life of epileptic children in Minia Governorate: a cross-sectional study

Background Quality of life of childhood epilepsy (QOLCE) is the main outcome that is increasingly being recognized as an essential element in the assessment of the epilepsy effects on life function and also treatment of epilepsy. This study aimed to assess the QOL among the epileptic children. Patients and Methods A cross sectional study design was carried out on 100 children. The study has been held in the Neurology and Psychiatry outpatient clinic of Minia university hospital; In addition to Minia Psychiatry hospital, the official psychiatry hospital in Minia governorate. The total sample included 100 children. Fifty epileptic children aged between 4–18 yrs and 50 apparently healthy children with no chronic illness, of matched age, sex, and social class were included as the control group. Results There was no significant difference between the two groups regarding sociodemographics, except for birth order and number of sibling, as well as for positive family history of epilepsy. Regarding the electroencephalography changes, there was a significant difference between the two groups. There was a statistically significant difference between the two groups regarding the low QOLCE score. Polytherapy had low score on QOLCE, especially in emotional, social, physical, and total score. Conclusions Childhood epilepsy affects the QOL of the epileptic children, especially cognitive, social, emotional, and physical functions. Polytherapy was associated with more impairment of QOL. On the contrary, epileptic patients who were compliant to treatment had good QOL.

Does the Vitamin D Deficiency Have Any Role in Severity or Prolongation of Seizure? A Pilot Study in Iran

Background: Based on previous studies, vitamin D deficiency could lead to nerve stimulation. The purpose of the present study was to determine frequency and duration of seizures in children with idiopathic epilepsy in two groups; normal level of vitamin D versus decreased level of vitamin D. Methods: This pilot, comparative study was carried out in Zanjan University of Medical Sciences on total 40 children aging between 2 to 12 years old (23 male and 17 female) with the diagnosis of idiopathic epilepsy. All patients were receiving anti-epileptic drugs. The initial questionnaire was completed by each parent. Total 40 epileptic cases were examined in close follow-ups every three months, during total 9 months. Meanwhile, the frequency and duration of each seizure were recorded in questionnaire at every three-month period. Vitamin D blood samples were analyzed at the beginning of the study and after 9 months following the study. Serum levels of Vitamin D were analyzed by ELISA method (Elecsys2010, RocheCo, Germany; STAR FAX; 2100), simultaneously, Vitamin D level &lt;30 ng/ml (nanogram per milliliter) was defined as Vitamin D deficiency. Cases were divided into two groups based on Vitamin D level. The frequency and duration of convulsions were compared in patients with normal level of vitamin D versus children with decreased level of vitamin D. Data were analyzed by Chi-square and t-test methods. Results: In all 40 patients, vitamin D level less than 30 ng/ml was detected in 32% (13 patients) at the beginning of study and 35% (14 patients) in 9 months later (13 patients were common between the two groups). There was no significant relationship between the frequency of seizures, the duration of seizures and vitamin D levels in patients. The relationship between positive family history of epilepsy and the number of seizures was reported significant. The frequency of vitamin D deficiency was higher in female cases in final evaluation. Conclusion: In the present study, a considerable correlation was detected between the frequency of seizures and positive history of seizure in the family. The frequency of vitamin D deficiency was higher in female cases in final analysis. No significant relationship was detected between the number of seizures, the mean duration of seizures and serum level of Vitamin D in children who received anticonvulsant drugs. However, vitamin D deficiency in patients was not overlooked in order to prevent known complications. We recommend a randomized clinical trial in the future with an adequate sample size. Moreover, a non-epileptic control group in study would be useful.