[Benign familial neonatal convulsions: a model of idiopathic epilepsy].
Benign neonatal familial convulsions have been recognized as a distinctive epileptic syndrome since 1964. This rare epileptic syndrome was classified in the category of idiopathic generalized epilepsies. Recently, mutations of potassium channel genes (KCNQ2, KCNQ3) were identified as responsible for this autosomic dominant epileptic syndrome. Generalized tonico-clonic seizures start at the second or third day after birth in children with no prenatal or perinatal pathological history. Interictal EEG is normal. This epilepsy is age-dependent: less than ten percent of children present seizures later in life. Despite their rarity, BNFC represent a useful model to understand the pathophysiology of idiopathic age dependant epilepsies.
Hirsch
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Service de Neurologie, Neuropsychologie et Explorations Fonctionnelles des Epilepsies, Hôpital Civil, Strasbourg.
de Saint-Martin
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A
Marescaux
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C
D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D051659:KCNQ3 Potassium Channel; D008959:Models, Neurological; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated; D012640:Seizures / Q000235:genetics* / Q000503:physiopathology*
D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated