Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.

Pediatr Neurol 2010 Feb;42(2):137-40

Clinic of Child Neurology, St. Naum University Hospital of Neurology and Psychiatry, Sofia, Bulgaria.

Genetic generalized epilepsy with febrile seizures plus (GEFS+) is an idiopathic generalized epileptic syndrome of heterogeneous phenotype. The cases described here are of two brothers, one with severe myoclonic epilepsy of infancy (Dravet syndrome) and the other myoclonic-astatic epilepsy. Their father experienced one simple febrile seizure in infancy and two generalized tonic-clonic seizures after head trauma in adulthood, and had generalized epileptiform activity in the electroencephalogram. He died in a severe sport accident before genetic testing could be performed. In both siblings, but not in their healthy mother, DNA analysis identified an unreported point mutation (c.3925 C>T) in exon 20 of the SCN1A gene. The missense mutation was therefore assumed to be inherited from the father, who had a very mild clinical picture, with a single febrile seizure and only occasional generalized tonic-clonic seizures. The offspring have GEFS+ phenotypes with opposite severity, an illustration of the broad intrafamilial variability of SCN1A gene mutations.

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https://www.orpha.net/data/patho/GB/uk-GEFS.pdf
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http://www.neurology-asia.org/articles/20103_003.pdf
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http://www.neurology.org/content/57/12/2265.full.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S088789940900439
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http://dx.doi.org/10.1016/j.pediatrneurol.2009.09.007DOI Listing
February 2010
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