Generalized epilepsy with febrile seizures plus, written GEFS+, is an autosomal dominant syndrome in which affected people can show a wide range of epilepsy patterns. Seizures may continue beyond early childhood, past about six years of age. The label is now understood to cover three further epilepsy disorders: severe myoclonic epilepsy of infancy, also called Dravet syndrome, a borderline form of it, and intractable epilepsy of childhood. At least six types are distinguished by the gene involved, with mutations reported in sodium channel genes such as SCN1A and SCN1B, in the GABA receptor gene GABRG2 and in the calcium channel related gene PCDH19. Penetrance is estimated at about sixty percent.
Facts
Classification
ICD-10 ChapterVI: Diseases of the Nervous System 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Generalized epilepsy with febrile seizures plus (Wikipedia)
Lead section
Known causative gene mutations are in the sodium channel
Lead section [disease-category]
syndromic autosomal dominant disorder
Lead section [body-system]
numerous epilepsy phenotypes
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