Table 1.

Genetic and clinical details for patients included in the current study

Patient Number	Age at presentation	Age at death	Sex	Primary clinical features									EEG finding	CT findings	Molecular genetics	Affected sibling	Previously published
				Seizures/status epilepticus	Visual symptoms	Liver failure/abnormal LFTs	Hemianopia	Hypotonia/ataxia/hemiplegia	Drowsiness/rapid fatigue	Headache	Vomiting	Fever
Patient 1	Not known	2.5 m	F	+
Patient 2	2 m	5.5 m	M	+				+					Slow base rhythm, frontal delta waves, generalized spikes.	Symmetrical hydrocephalus.		Affected sister.
Patient 3	1 m	6.5 m	F	+					+		+		Hypsarrhythmia
Patient 4	7 m	7 m	M	+		+									p.Ala467Thr/Gly848Ser		[29]
Patient 5	4 m	13 m	M	+	+	+		+	+				Hypsarrhythmia
Patient 6	11 m	13 m	M	+		+									p.Gly303Arg/Ala467Thr		[29]
Patient 7	11 m	14 m	F	+		+		+	+		+		Widespread irregular alpha and theta activity mixed with moderate delta activity.	Mild generalized cerebral atrophy.	p.Ala647Thr/Gly848Ser	None
Patient 8	17 m	27 m	M	+	+	+	+	+	+		+	+	Deterioration	Atrophy in left posterior region.	p.Ala647Thr/Thr914Pro	Unaffected sister.	[20]
Patient 9	2 m	4 y	F	+	+						+
Patient 10	6 m	7 y	F	+	+			+			+		Asymmetric dysrhythmia with dominant delta activity in in fronto‐parietal regions, slow wave spike variants in occipital lobes.		p.Thr748Ser/Thr748Ser		[12]
Patient 11	6 y	12.5 y	M	+	+			+		+	+		Diffusely slow activity.	Diffuse symmetrical cerebral atrophy and enlarged lateral ventricles.
Patient 12	1 y	14 y	F	+												Affected sibling.
Patient 13	16 y	18 y	F	+	+	+		+		+	+			Ventricular dilation.		Affected brother. p.Trp748Ser, p.Arg1096Cys