generalised epilepsy with febrile seizures plus, type 3

A rare autosomal dominant condition (OMIM:611277) with incomplete penetrance and wide intrafamilial variability, characterised by febrile seizures persisting beyond age 6 and/or other seizure types (e.g.,generalised seizures precipitated by fever and partial seizures of variable severity).
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.

单词	generalised epilepsy with febrile seizures plus, type 3
释义	generalised epilepsy with febrile seizures plus, type 3 generalised epilepsy with febrile seizures plus, type 3 A rare autosomal dominant condition (OMIM:611277) with incomplete penetrance and wide intrafamilial variability, characterised by febrile seizures persisting beyond age 6 and/or other seizure types (e.g.,generalised seizures precipitated by fever and partial seizures of variable severity). 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.
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