Table 1.

Clinical feature of patients with YWHAG mutations.

Subjects	Gender	Age	Seizure onset	Seizure course	EEG	MRI	Effective AEDs	Diagnosis
Case 1 (c.124C>T/p.Arg42Ter)
II-2	Male	40 yr	<1 yr	GTCS (FS), 1–2 times/yr for 4 yr	NA	NA	NA	FS
II-3	Female	38 yr	<1 yr	GTCS (FS), 1–2 times/yr for 4 yr	NA	NA	NA	FS
III-1	Male	14 yr	2 yr	GTCS (FS), 1–2 times/yr for 5 yr	NA	NA	NA	FS
III-2	Female	3 yr	7 mo	GTCS (FS and aFS), 5 times/yr for 1 yr; myoclonic seizures, 10 times/d for 1 mo	Ictal: myoclonic seizures with generalized irregular polyspike-slow waves; interictal: no discharge	Normal	VPA	FS+, myoclonic epilepsy
III-3	Male	4 yr	8 mo	GTCS (FS and aFS), 5 times/yr for 1 yr	NA	Normal	VPA	FS+
III-4	Female	8 yr	2 yr	GTCS (FS), 1–2 times/yr for 3yr	NA	NA	NA	FS
Case 2 (c.373A>G/p.Lys125Glu)
B: II-1	Male	3 yr	19 mo	GTCS (FS and aFS), 7 times/yr for 1 yr; myoclonic seizures, 3 times/d for 1 mo	Generalized spike-slow waves	Normal	VPA	FS+, myoclonic epilepsy

AEDs, antiepileptic drugs; aFS, afebrile seizure; EEG, electroencephalogram; FS, febrile seizures; FS+, febrile seizures plus; GTCS, generalized tonic-clonic seizures; MRI, magnetic resonance imaging; NA, not available; VPA, valproate; yr, year; mo, month.