Which genetic mutations cause seizure syndromes?

Updated: May 30, 2019
  • Author: David Y Ko, MD; Chief Editor: Selim R Benbadis, MD  more...
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Answer

Mutations in other genes, such as SCN1A, can cause a range of seizure syndromes. At the mild end of this spectrum, patients may have familial febrile seizures and may otherwise be normal. At the severe end, patients may have severe myoclonic epilepsy of infancy (also known as Dravet syndrome).

Mutations in SCN2A and SCN1B are known to cause generalized epilepsy with febrile seizures.

Mutations in SCN9A, GPA6, and GPR98 are known to cause familial febrile seizures.

Mutation in GABRG2 is known to cause generalized epilepsy with febrile seizures, and familial febrile seizures.


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