Novel mutations in SCN9A occurring with fever-associated seizures or epilepsy

Fever-associated seizures or epilepsy (FASE), which is common in infants and children, is primarily characterised by the occurrence of an epileptic seizure accompanied with fever. FASE includes febrile seizures (FS), febrile seizures plus (FS+), genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS), which is a severe form of epilepsy. Genetic factors, such as SCN1A and GABRG2 mutations, have been demonstrated to play a key role in the pathogenesis of FASE[1,2,3]. However, the exact causative genetic changes are not defined in some patients with FASE.

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