febrile seizures, familial, type 8

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febrile seizures, familial, type 8

A clinical condition (OMIM:611277) characterised by a seizure event occurring between 6 months and 6 years of age, associated with fever and without evidence of intracranial infection or defined pathologic or traumatic cause. Febrile seizures are associated with subsequent afebrile and unprovoked seizures in 2% to 7% of patients.

Molecular pathology
Caused by defects of GABRG2, which encodes a subunit of a ligand-gated ionic channel that plays a key role in inhibiting neurotransmission.