International Classification Of Epileptic Syndromes Research Articles

Epilepsia generalizada idiopática. Utilidad de la semiología y del electroencefalograma para su clasificación

The different syndromes included in the idiopathic generalized epilepsies present an important overlapping of their electroclinical characteristics. To compare the two actual classifications (International classification of epileptic syndromes: ILAE of 1989 and of 2001) in a sample of patients with idiopathic generalised epilepsy (IGE) and to evaluate which electro-clinical factors were more useful in order to classify a patient into a syndrome. 70 patients (44 women/26 men). Neurological examination and neuro-radiological examination were normal in all cases. The EEG (standard or sleep deprived) showed generalised epileptiform discharges in all patients. Clinical findings included a median age of onset 12.3 years. Most frequent first type of seizure was tonic-clonic (71%). Seizures during awakening were the most frequent (37%) and lack of sleep was the most important precipitating factor (44.7%). Generalized epileptiform discharges were present in 62.9% of the basal sleep deprived EEG, on the other hand, only 22.3% of the basal standard EEG showed epileptiform discharges, p = 0.048. 28% of patients were unclassifiable according to the 1989 ILAE classification, 7% were unclassifiable according to the 2001 ILAE classification. EEG during intermittent photic stimulation (p = 0.007), at awakening (p = 0.015) and the timetable of the seizures (seizures generalised at awakening) (p = 0.053) differentiated between idiopathic generalised syndromes of adolescence. The 2001 ILAE classification is more useful in order to classify patients with IGE because includes patients previously considered unclassifiable in the syndrome of generalised epilepsy with different phenotypes.

Familial severe myoclonic epilepsy of infancy: truncation of Na v 1.1 and genetic heterogeneity

ABSTRACT Background Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome has been long suspected of having a genetic origin. Recently, mutations in SCN1A and GABRG2 have been described in SMEI patients. The sporadic nature of the SMEI syndrome and the occurrence of SCN1A and GABRG2 mutations in a mild familial phenotype, termed generalized epilepsy with febrile seizure plus complicates genotype‐phenotype correlations. In order to further investigate the role of SCN1A and GABRG2 in the pathogenesis of SMEI we have screened for mutations three families with at least two members affected by Dravet syndrome. Methods Clinical criteria followed the international classification of epileptic syndromes. Mutational screening of SCNIA and GABRG2 genes was performed by denaturing high performance liquid chromatography (DHPLC) and direct sequencing of DNA fragments showing a variant chromatogram. Results Thirty‐eight fragments spanning 26 exons of SCN1A and nine exons of GABRG2 were analysed in three probands. Five variant chromatograms were identified; four corresponded to known polymorphisms, one to a novel dinucleotide insertion on exon 26 of SCNIA. The mutation leads to a frameshift and a premature stop codon at amino acid 1 779 of the protein. The mutation was present in the affected sibling and was inherited from the mother who had experienced a single febrile seizure in childhood. Conclusions Among three families analysed, a single family was mutant for SCNIA. Our study suggests that the syndrome is genetically heterogeneous. The variable expressivity we observed for the c5240insAA mutation suggests that other factors are needed for the development of the full SMEI phenotype.

Clinical and video‐polygraphic features of epileptic spasms in adults with cortical migration disorder

ABSTRACT The International Classification of Epileptic Syndromes considers epileptic spasms to be typical seizures of West syndrome. Literature reports show that spasms are present in epileptic syndromes other than West syndrome but there are few data on their characteristics in adults. We describe ictal, clinical and video‐polygraphic findings in three patients (aged 21, 32 and 57 years) with epileptic spasms and with diffuse (case 2), focal right fronto‐parietal (case 1) and bi‐opercular (case 3) pachygyria. Spasms had been present since the ages of 1 month, 11 and 27 years respectively. Only one patient is mentally retarded. Two of our patients (cases 2 and 3) have partial seizures. Ictal polygraphic studies showed a positive, diffuse, high amplitude slow wave activity during spasms, with superimposed fast activity, followed by a diffuse flattening in all cases with a typical muscle pattern. Epileptic spasms, as typically described in West syndrome, can maintain the same semeiological and electroencephalographic features during adulthood in certain patients with cortical dysplasia.

Intractable epilepsy and disturbed visuomotor performance.

The factors relevant to intractability, types of epilepsy and impairment of dexterity in patients with intractable epilepsy were studied independently in different groups of patients. The factors relevant to intractable epilepsy that were disclosed in 202 patients, who required hospitalization more than twice, were as follows: strong seizure propensity, neuropsychiatric disorders including mental deterioration of various degrees, ataxia, personality changes and psychotic episodes, intolerance to antiepileptic drugs due to acute or chronic side effects, idiosyncrasy and internal disorders, self-induced seizure, misdiagnosis and mistreatment, and breakdown of family care of patients. The types of epilepsy in 224 patients with intractable epilepsy whose seizures were not adequately controlled and recurred on a monthly basis in spite of hospitalization were classified as follows: 101 patients with localization-related epilepsies or syndromes, 106 with generalized epilepsies or syndromes, 16 with undetermined epilepsies or syndromes and one with specific syndrome. In regard to partial epilepsies, frontal lobe epilepsy and partial epilepsy with multiple foci were at least partially intractable as temporal lobe epilepsy. With respect to intractable generalized epilepsies, miscellaneous symptomatic generalized epilepsies like intractable grand mal epilepsy with progressive mental retardation in childhood were as important as Lennox-Gastaut or West syndrome though it defies classification into any established syndromes. The proposed International Classification of Epileptic Syndromes and Epilepsies was found adequate for analysis of intractable epilepsy. The disturbance of fine motor performance found in 84 patients who participated in occupational therapy was investigated by test programs comprising nine subbatteries.(ABSTRACT TRUNCATED AT 250 WORDS)