. Author manuscript; available in PMC: 2021 Feb 1.

Published in final edited form as: Epilepsia. 2020 Jan 19;61(2):249–258. doi: 10.1111/epi.16427

Table 3:

Candidate epilepsy genes

Participant	Gene	Published phenotype (#OMIM or HGMD)	Participant’s phenotype
POD_0163	CAMTA1	Cerebellar ataxia with ID (#614765)	IS, refractory epilepsy, DD, CVI
POD_0163	LPPR4	No human phenotype	IS, refractory epilepsy, DD, CVI
POD_0030	DNAH7	Variable, one patient with dysmorphic features, seizures, hypotonia	OS, refractory seizures, DD, CVI, premature death
POD_0060	FAT3	Atypical Rett syndrome	Features of Rett syndrome
POD_0010	GABRA6	IGE, psychiatric disorders	Atypical absence epilepsy, focal abnormalities on EEG
POD_0184	GABRA6	IGE, psychiatric disorders	Temporal focal cortical dysplasia, refractory seizures, temporal lobe resection
POD_0081	HUWE1	X-linked ID (#300706)	OS
POD_0114			IS, refractory seizures
POD_0130			IS, refractory seizures
POD_0102	NRXN1	ASD, DD, epilepsy, neuropsychiatric disorders; Pitt-Hopkins-like syndrome 2 (#614325)	OS, dysregulated breathing, seizures, premature death
POD_0102	NRXN2	ASD	OS, dysregulated breathing, seizures, premature death
POD_0073	PTCHD1	XL ID and/or autism (#300830)	West syndrome, refractory epilepsy, DD, CVI

ASD = autism spectrum disorder; CVI = cerebrovisual impairment; DD = developmental delay; Het = heterozygous; FCD = focal cortical dysplasia; ID = intellectual disability; IGE = idiopathic generalized epilepsy; IS = infantile spasms; OMIM = Online Mendelian Inheritance in Man; OS = Ohtahara syndrome; PP-2 = PolyPhen2; SIFT = Sorting Intolerant from Tolerant; XL = X-linked. Transcript identification is provided in Supplementary Table 2.