Benign Partial Epilepsy In Infancy Research Articles

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations

Mutations in the proline-rich transmembrane protein 2 gene (PRRT2) are known to cause clinical symptoms of paroxysmal kinesigenic dyskinesia (PKD), benign partial epilepsy in infancy (BPEI), and infantile convulsions with choreoathetosis (ICCA) syndrome; however, not all patients with BPEI have PRRT2 mutations, and the genetic backgrounds for such patients are still unknown. To characterize BPEI patients without PRRT2 mutations, we analyzed unrelated 63 patients with BPEI. Sanger sequencing identified PRRT2 mutations in 33 probands (52%). The most common insertion, c.649dup, was identified in 28 probands. Two novel truncation mutations, c.232dup and c.503_504del were identified independently. 16p11.2 microdeletion was not detected in patients without PRRT2 mutations. PRRT2 mutation detection rates were 21/31 (68%) and 12/32 (38%) in probands who were positive or negative for family history, respectively, indicating a significant difference between the two groups. In this study, 20 probands with BPEI were negative for family history of BPEI and negative for PRRT2 mutation. BPEI in these probands may be due to complex genetic predispositions. Because the possibility remains that a second gene contributes to BPEI, further studies are necessary in patients with BPEI but no PRRT2 mutation, especially in Asian people.

Benign convulsions in newborns and infants: Occurrence, clinical course and prognosis

Background During early development severe epilepsies may appear, some with well established occurrence. Benign non-epileptic and epileptic paroxysmal syndromes with excellent prognosis occur in the same period. There are no exact data on their occurrence. Aim We have reviewed medical histories of children with benign non-epileptic or benign epileptic events: benign myoclonus of early infancy, benign neonatal sleep myoclonus, benign sleep myoclonus in infancy, benign partial epilepsy in infancy (BPEI) and benign infantile familial convulsions (BIFC) were established. The occurrence, clinical characteristics and prognosis of these syndromes were evaluated. Methods Inclusion criteria were met in 31 children. Research included retrospective analysis of clinical characteristics, laboratory values, neuroimaging and neurophysiological assessments, followed by evaluation of psychosocial development with the use of the Strengths and Difficulties Questionnaire (SDQ), fulfilled by parents. Results In our group the incidence of benign non-epileptic convulsions was 6.69 per 10 000 live births and the incidence of benign epileptic convulsions was 1.35 per 10 000. Male/female ratio in the group of children with non-epileptic events was 2.1:1. Among non-epileptic group 5 out of 23 children and among epileptic group 3 out of 8 children had minimal, mild or moderate abnormalities at neurological assessment at the time of the first clinical examination. Nonspecific changes in laboratory values were seen in 6 out of 23 in the non-epileptic and in 1 out of 8 children in the epileptic group. Neurophysiological assessments showed subtle changes in 4/23 in the non-epileptic and 6/8 in the epileptic group. Neuroimaging was not optimal in 5/23 with non-epileptic and 3/8 with epileptic events. Analysis of SDQ did not show significant deviations in psyhosocial development. Statistically significant deviation was observed only in relations with peers ( p = 0.009). Conclusions Benign neonatal and infantile convulsions are more frequent than severe epilepsies of the same age period. Results show higher proportion of males with benign non-epileptic conditions. No deviations in further development was found. Laboratory values, neuroimaging and neurophysiological assessments were normal or nonspecifically changed.

SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis

We hypothesized that benign partial epilepsy in infancy (BPEI) and convulsions with gastroenteritis (CwG) may have a similar genetic background, because previous studies indicate that clinical features overlap between BPEI and CwG. As carbamazepine is effective for cessation of clustering seizures in children with BPEI and CwG, some genetic mutations regarding sodium channels may be related to the development of BPEI and/or CwG. We focused on SCN1B encoding the voltage-dependent sodium channel β subunit. We explored SCN1B mutation in 6 children with BPEI and 6 children with CwG. Genomic DNAs were extracted from peripheral blood samples accumulated from the patients and all 5 exons of SCN1B were amplified by standard PCR amplification. There were no SCN1B mutations or pathological single nucleotide polymorphisms in any of the patients, although the phenotypes of our patients were typical for BPEI or CwG. Our study demonstrated that SCN1B may not be related to the occurrence of BPEI or CwG.

Transiently reduced water diffusion in the corpus callosum in infants with benign partial epilepsy in infancy

Neuroimaging findings are usually normal in children with benign partial epilepsy in infancy. However, we found a transient reduction of water diffusion in the corpus callosum in two patients with probable benign partial epilepsy in infancy. The patients were admitted to our hospital because of seizure clusters. No delay in the developmental milestones was seen, and no neurological abnormalities were observed during the interictal period. Interictal electroencephalography was normal in both infants. However, the diffusion-weighted images showed abnormal high intensities in both the genu and splenium in one patient and in the splenium only in the other. No diffusion abnormalities were observed in follow-up magnetic resonance imaging. The clustered seizures may be related to the transient callosal lesions seen in our patients.

Usefulness of single-channel amplitude-integrated electroencephalography for continuous seizure monitoring in infancy: A case report

We continuously monitored clustered seizures using single-channel amplitude-integrated electroencephalography (aEEG) in a 6-month-old girl with probable benign partial epilepsy in infancy (BPEI). The patient was admitted with clustered seizures, and aEEG using three disposable electrodes was started by a non-expert pediatrician. During the recording, seven seizures were detected. The last seizure was nearly overlooked on clinical observation, but was later confirmed on the basis of aEEG findings. The efficacy of antiepileptic drugs could also be objectively assessed from aEEG findings. Our results show that aEEG is useful for the continuous monitoring of seizures even in older children.

Evolución atípica de la epilepsia rolándica: aportaciones de la tomografía computarizada por emisión de fotón único corregistrada con imágenes de resonancia magnética

The complicated forms of rolandic epilepsy progress with a continuous spike-wave pattern in slow-wave sleep. Experiments conducted in cats suggest that this pattern can only appear if there is bilateral thalamic insult. AIM. To determine whether thalamic hypoperfusion is associated with the complicated variants of rolandic epilepsy. A group of 24 children were studied over a period of six years following their first epileptic seizure. During the follow-up an interictal magnetic resonance scan and single-photon emission computerised tomography (SPECT) were performed. Results were examined to ascertain whether there were asymmetries in the distribution of cerebral blood flow through structures, using parametric statistical maps. The brain SPECT was performed when progression to atypical benign partial epilepsy in infancy was diagnosed and in typical forms of rolandic epilepsy when there was some mild neuropsychological deficit that led the specialist to suspect the existence of a focal cortical lesion. Bilateral thalamic hypoperfusion was found in all patients diagnosed with atypical benign partial epilepsy in infancy, which was correlated with the presence of continuous spike-waves during the slow-wave phase of non-REM sleep. Bilateral thalamic hypoperfusion seems to be a necessary condition for the atypical progression of rolandic epilepsy.

Ictal EEG in Benign Partial Epilepsy in Infancy

The aim of this study is to further clarify ictal electroencephalographic findings of patients with benign partial epilepsy in infancy in order to better understand its neurophysiologic features. The study group consisted of 13 infants with definite benign partial epilepsy in infancy, in whom ictal electroencephalograms were recorded and its benignity was confirmed at 8 years or more. The seizure manifestation was reviewed on the basis of video findings in eight patients in whom simultaneous video-electroencephalography recording was available. In the other five patients, the seizure manifestations were determined according to the observations of physicians, nurses, or technicians. Thirteen seizures from eight patients were complex partial, and six seizures from six patients were secondarily generalized ones. Ictal discharges at the onset of a seizure were focal in all seizures. The site of the origin of seizures was in the temporal area in 10 of 13 complex partial seizures, whereas it was in the parietal or occipital area in all 6 secondarily generalized seizures. Among 13 complex partial seizures, paroxysmal discharges remained focal throughout the seizures in 6 seizures, whereas they spread to one hemisphere in the other 7 seizures. Motion arrest or decreased responsiveness was uniformly observed. Lateral eye deviation was commonly recognized in complex partial seizures, whereas head rotation was observed only in seizures in which hemispheric propagation of ictal discharges was observed. Ictal electroencephalographic findings of patients with benign partial epilepsy in infancy were relatively uniform, suggesting the homogeneity of patients with benign partial epilepsy in infancy.

The Clinical Characterizations of Benign Partial Epilepsy in Infancy

The aim of this study is to clarify the detailed clinical features of benign partial epilepsy in infancy. The subject of the study was 33 patients with benign partial epilepsy in infancy confirmed by a long-term follow-up beyond 8 years of age. The data were obtained from medical records of the patients in combination with the data obtained from telephone interview. The median age at the first and last seizure was 5 and 8 months, respectively. In 26 patients, seizures disappeared within 3 months after the onset. Family history of benign partial epilepsy in infancy was seen in 17 patients. The median number of seizures was 7. A cluster of seizures was observed in 26 patients. The type of seizures was complex partial seizures alone in 6 patients, secondarily generalized seizures alone in 9, and both types in 18. Decreased responsiveness, lateral eye deviation, and cyanosis were commonly observed. Initial interictal electroencephalograms were normal in all patients. However, paroxysmal discharges were recognized in 2 patients in the second EEG during the first year of life. The main features of benign partial epilepsy in infancy were a high incidence of a cluster of seizures, short persistence of seizures, and normal initial interictal EEGs.

Benign pediatric localization‐related epilepsies Part I. Syndromes in infancy

ABSTRACT There is currently increasing interest in identifying and classifying pediatric benign epilepsy syndromes and recently several new syndromes have been recognized. Benign epilepsy syndromes, by definition, occur in children with normal developmental history, respond well to therapy, and remit without sequelae. The large majority of children with benign epilepsy syndromes follow a truly benign course. The concept of benign epilepsy syndromes has, however, been challenged by the minority of patients who continue to have seizures despite therapy, develop new seizures after initial remission, or exhibit neuropsychological abnormalities. Without long‐term follow‐up, benignity can not be truly ascertained a priori . Thus it may be preferable to use the terms possible and probable before the name of a specific syndrome until such time that the diagnosis of a definite benign syndrome is confirmed on long‐term follow‐up. In this review of the pediatric benign localization‐related epilepsy syndromes, we address the concept of benignity and the process of diagnosis of a benign epilepsy syndrome. In addition we review the epidemiology, clinical manifestations, EEG findings, work‐up, diagnostic criteria, differential diagnosis, genetics, management and prognosis of benign infantile familial convulsions, benign partial epilepsy in infancy with complex partial seizures, benign partial epilepsy in infancy with secondarily generalized seizures, benign infantile convulsions associated with mild gastroenteritis, and benign infantile focal epilepsy with midline spikes and waves during sleep.

Classification of benign infantile afebrile seizures

Purpose The aim of this study is to classify infantile cases with benign seizures into known epileptic syndromes, thereby facilitating discussion of clinical factors that could play an important role in diagnosis. Subjects Fifty-seven patients with afebrile seizures fulfilling all of the following criteria were enrolled: (1) normal development prior to the onset, (2) no underlying disorders nor neurological abnormalities, (3) onset before the age of four and (4) normal interictal EEG and neuroimaging findings. Results Thirty-nine cases (Group A) were characterized by an association of mild gastroenteritis. The remaining 18 cases were divided into two groups according to the seizure type. One group had partial seizures (Group B, 13 cases) while the other was suspected to have generalized seizures (Group C, 5 cases). Age at onset was significantly higher for Group A (19.5 ± 5.5 months) than Groups B (5.3 ± 1.8 months) ( p < 0.001) and C (5.8 ± 3.5 months) ( p = 0.038). Positive family history of seizure disorder, seizure cluster tendency, and the efficacy of lidocaine against seizure clusters were common in the three groups. Conclusions Features in Group A were consistent with benign convulsions with mild gastroenteritis (proposed by Morooka) [Morooka, K., 1982. Mild diarrhea and convulsions. Shonika 23, 134–137 (in Japanese)], those of Group B with benign partial epilepsy in infancy [Watanabe, K., Yamamoto, N., Negoro, T., Takaesu, E., Aso, K., Furune, S., Takahashi, I., 1987. Benign complex partial epilepsies in infancy. Pediatr. Neurol. 3, 208–211], and those of Group C with benign infantile convulsions [Fukuyama, Y., 1963. Borderland of epilepsy with special reference to febrile convulsions and so-called infantile convulsions. Seishin Igaku 5, 211–223 (in Japanese)]. The distinction between these syndromes depends upon age at onset, association with gastroenteritis, and ictal symptomatology. In our experience, however, it was not easy to catch seizure type accurately in clinical situations. As far as the results of ictal video-EEG monitoring ever carried out concern, focal initiation of parxysmal discharges was demonstrated in all cases, not only of BPEI but also of apparent generalized seizures examined without exception. These observations led the authors to conclude that the identity of BIC is dubious, most probably it will represent a subtype of BPEI.

Benign Partial Epilepsy in Infancy: Myth or Reality?

Benign partial epilepsy in infancy (BPEI) was first described by Watanabe in 1987. The aim of this study is to describe a series of infants from the United States to characterize this entity further. Among patients with the diagnosis of epilepsy followed up at our institution between 2002 and 2004, those satisfying the criteria for BPEI were included in a retrospective study. Sixteen (10.2%) of 150 patients with new onset of epilepsy younger than 2 years were identified. The mean age at seizure onset was 8 months. Four (25%) infants had a family history of benign seizures. All infants were neurologically and developmentally normal at the onset of seizures. The seizures occurred in clusters in 75% of patients, predominantly in wakefulness. The initial manifestation was behavioral arrest with staring (69%) and apnea with cyanosis or pallor (37.5%). These symptoms were followed by deviation of eyes or head or both (56%), mild clonic movements (31%), or increased limb tone (35%). Secondary generalization was noticed in 37.5% of patients. All infants had normal interictal EEGs and brain MRIs. Ictal EEGs disclosed electrographic seizures in 50% of patients (temporal origin in 62% and central in 38%). Fifteen (94%) patients were treated with AEDs with good response. The mean duration of treatment was 12.4 months. The final developmental assessment of all patients was normal. We believe that BPEI exists as a unique entity and should be included in the differential diagnosis of epilepsies in infancy with partial origin.

Antiepileptic treatment against clustered seizures in benign partial epilepsy in infancy

We performed detailed review of clinical course of clustered seizures in patients with benign partial epilepsy in infancy in order to determine the optimal treatment during the acute period. We retrospectively investigated the details of antiepileptic treatment for clustered seizures in 20 patients with benign partial epilepsy in infancy. The temporal course of seizures and the use of antiepileptic drugs were investigated in each patient. Drugs were judged as effective when seizure cessation was achieved after administration of the drug. As the first drug, diazepam/bromazepam was effective in 14% and phenobarbital in 60%. As the second drug, diazepam/bromazepam was effective in 13% and phenobarbital in 40%. As the third drug, phenobarbital was effective in 56%. The efficacy rate of the first dose of phenobarbital was relatively higher than that of diazepam/bromazepam. Persistence of seizures after treatment was relatively shorter and the number of seizures after treatment was relatively smaller in patients treated with PB as the first 2 drugs. In conclusion, the efficacy of diazepam/bromazepam or phenobarbital was insufficient for the cessation of clustered seizures in benign partial epilepsy in infancy.

Long‐term Follow‐up of Patients with Benign Partial Epilepsy in Infancy

The aim of this study was to investigate the long-term outcome of children with benign partial epilepsy in infancy (BPEI). A telephone-interview survey using a structured questionnaire was conducted with patients who were diagnosed as having possible BPEI at age 2 years and who were 8 years or older at the time of the survey. The data from 39 of 48 patients were available. The median age at the time of the survey was 11.3 years; 18 boys and 21 girls were included. Three patients had a recurrence of unprovoked seizure beyond age 2 years. Four patients had cognitive problems (mild mental retardation in three and Asperger syndrome in one). An association of paroxysmal kinesigenic choreoathetosis was observed in three patients, and another three had experienced seizures associated with mild gastroenteritis. Major behavioral problems were not recognized in any patients. Four patients were excluded from having definite BPEI at age 5 years, and another two were excluded for having definite BPEI at the last follow-up. Eventually, 33 of 39 patients were categorized as having definite BPEI beyond 8 years of age. A large majority of patients diagnosed as possibly having BPEI at age 2 years did not have a recurrence of unprovoked seizures and cognitive problems beyond 8 years of age.

Short duration of benign partial epilepsy in infancy.

It has previously been reported that benign partial epilepsy in infancy constitutes up to 29% of the epilepsies presenting in the first 2 years of life. To determine the proportion of benign partial epilepsy in our epilepsy population, we retrospectively reviewed 331 patients with greater than two afebrile seizures in the first 2 years of life between 1993 and 2000. Inclusion criteria were (1) partial seizures with or without secondary generalization, (2) normal development, (3) no other neurologic abnormalities, (4) normal interictal electroencephalograms (EEGs), and (5) good response to treatment. Exclusion criteria included seizures that (1) were caused by acute central nervous system insult, (2) occurred only within the first month of life, and (3) lasted longer than 30 minutes. Of 331 patients, 22 (6.6%) fulfilled the criteria with a minimum of 2 years and a mean of 4 years of follow-up off antiepilepsy drug treatment. Six (27%) had complex partial seizures, and 16 (73%) had complex partial seizures with secondary generalization. Neuroimaging studies were normal in all patients. Of the 6 patients with ictal EEGs, 3 had a temporal lobe focus, 1 had an occipital lobe focus, and the remaining 2 had dual foci. Median onset was 4.0 months (range 0.8-9.3). Seizures remitted within 4 months in 20 (91%). Mean duration of seizure persistence was 2.1 months (range 0-8.3) and was longer in treated patients. Median age at last seizure was 6.4 months (range 2-18). Nineteen were treated with antiepilepsy drugs. At last follow-up (mean duration of 52.2 months), all patients were seizure free and off antiepilepsy drugs. Benign partial epilepsy in infancy is an epilepsy syndrome of short duration and is easily recognized using accepted classification criteria. Benign partial epilepsy in infancy appears to be an idiopathic localization-related epilepsy with a favorable prognosis. The incidence in our population is not as common as previously reported. Based on our findings, we suggest weaning of antiepilepsy drugs 6 months after seizure onset.

Benign idiopathic partial epilepsies in infancy.

In infancy, partial epilepsies have been considered with suspicion for their probable association with brain lesions. Japanese authors first described partial epilepsies in infancy with a favorable outcome and called them benign partial epilepsy in infancy with complex partial seizures. Similar, but familial, cases with onset during the first year of life were described some years later and called benign infantile familial convulsions. Similar familial cases with subsequent choreoathetosis were described in 1997 and called infantile convulsions and choreoathetosis. Benign infantile convulsions have also been described in association with mild gastroenteritis. Interictal electroencephalography (EEG) was always normal in all of these forms. More recently, a new epileptic syndrome characterized by partial seizures with onset between ages 13 and 30 months, a benign outcome, and characteristic EEG abnormalities in the vertex regions during sleep has been described. There is also an early-onset benign childhood occipital seizure susceptibility syndrome that can start in infancy.

Early recognition of benign partial epilepsy in infancy.

The aim of this study is to determine how precisely we can recognize the outcome in infants with epilepsy beginning in the first year of life. We performed a prospective 5-year follow-up study on 63 patients who developed epilepsy in the first year of life. We first judged that patients met the criteria of "possible benign partial epilepsy in infancy (BPEI)" on enrollment in this study. At 2 years of age, we reevaluated the seizure and developmental outcome in the patients who were diagnosed as having "possible BPEI." We finally judged that patients met the criteria of "definite BPEI" at age 5 years. "Possible BPEI" was defined as epilepsy meeting all the following conditions: (a) complex partial seizures and/or secondarily generalized seizures; (b) normal psychomotor development and neurologic findings before onset; (c) normal interictal electroencephalograms; (d) normal cranial computed tomography (CT) and magnetic resonance imaging (MRI) findings; and (e) no seizures during the first 4 weeks of life. "Definite BPEI" was defined as epilepsy meeting all the following criteria in addition to those of "possible BPEI": (a) normal psychomotor development beyond age 5 years, and (b) no seizures beyond age 2 years. Thirty-two of the 63 patients met the inclusion criteria completely and were included in the "possible BPEI" group. Twenty-five of the 32 patients completed the 5-year follow-up. At age 2 years, four patients were excluded from the "possible BPEI" group because of seizure recurrence and/or delayed development. By age 5 years, one had a recurrence of seizures, and another exhibited mildly delayed psychomotor development. We finally diagnosed 19 patients as having "definite BPEI." "Definite BPEI" accounted for 76% of the patients diagnosed as having "possible BPEI" at the first presentation and 90% of those who met the conditions on reevaluation at age 2 years. Recognition of BPEI is possible, to some extent, at the first presentation, and reevaluation at age 2 years is useful for a more precise diagnosis.

Benign partial epilepsy in infancy with complex partial seizures (Watanabe's syndrome): 12 non-Japanese new cases.

International epilepsy classification includes different epileptic syndromes with favourable outcomes in pediatric age. In addition to these, other forms probably exist and in various papers in international literature they are proposed as new entities. This article presents a survey of benign complex partial epilepsy in infancy, a new epileptic syndrome first proposed by Watanabe, in 1987. Our work represents the only description of non-Japanese cases although similar but familial cases had been referred by Vigevano in 1992. We present data for 12 children (aged up to 9 years) followed over 2 years who had all the typical clinical features characterizing Watanabe's cases. For all of them we obtained EEG seizure recordings demonstrating the partial nature of their fits, arising from occipital or temporal regions. Interictal EEG were completely normal, both in waking and sleep. Evolution demonstrated benign outcome and all the children are seizure-free (eight of them have already stopped all medication) and all have normal psychomotor development.

Benign Partial Epilepsy in Infancy

The frequency of occurrence of benign partial epilepsy in infancy (BPEI) in a first line general hospital was determined among 75 patients presenting with epilepsy in the first 2 years of age and evaluated between 1987 and 1993 at the Departments of Paediatrics, Anjo Kosei Hospital, Anjo Aichi, and Nagoya University School of Medicine, Nagoya, Japan.

Benign partial epilepsy in infancy.

The aim was to examine the occurrence of benign partial epilepsy in infancy (BPEI). BPEI was defined as epilepsies with complex partial seizures (CPS) or secondary generalised seizures (SGS), or both, compatible with the following characteristics: normal development before and after onset, no underlying disorders, normal interictal electroencephalograms (EEGs), and good response to treatment. All 75 patients who developed epilepsy within the first 2 years of age between 1987 and 1993 were evaluated: 22 patients fulfilled the definition completely; eight had CPS only, four SGS only, and 10 had both CPS and SGS; 17 had clusters of seizures. Eight patients had a positive family history. The average age of onset of seizures was 5.9 months. Interictal EEGs were all normal. Response to treatment was excellent and the average period of seizure persistence was 3.0 months. All had normal psychomotor development. Patients with BPEI were more common in this study than previously reported.

Benign partial epilepsy with secondarily generalized seizures in infancy.

Seven infants with benign idiopathic partial epilepsy presented with apparently generalized tonic-clonic seizures (GTCs) which proved to be partial seizures evolving to secondarily generalized seizures. All were easily controlled with phenobarbital (PB) or carbamazepine (CBZ), and remained seizure-free > 3 years even after discontinuation of medication, and had a normal developmental outcome. The initial seizure manifestation consisting of motion arrest, staring or blank eyes, or crying associated with focal paroxysmal discharges was followed by GTCs in accordance with generalization of paroxysmal discharges. Four infants had a family history of benign type of childhood convulsions. The term "benign partial epilepsy in infancy" is proposed to combine this syndrome with the previously described benign infantile epilepsy with complex partial seizures.