Molecular typing of familial temporal lobe epilepsy

doi:10.5498/wjp.v12.i1.98

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World Journal of Psychiatry

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World J Psychiatry. Jan 19, 2022; 12(1): 98-107
Published online Jan 19, 2022. doi: 10.5498/wjp.v12.i1.98

Table 1 Eleven different types of familial temporal lobe epilepsy

Phenotype	OMIM ID	Gene/locus	Inheritance	Age at seizure onset (yr)	Seizure types	EEG	MRI	Epilepsy types	Prognosis	Ref.
ETL1	600512	LGI1	AD	4-50	Aud, Aph, FBTCS	T ea	Nor	LTLE	Responsive to ASM	[20,24,25]
ETL2	608096	Chr12q22-q23.3	AD	0.75-35	FS, FBTCS; Cog, Aut	Nor, T ea	HM	MTLE	Responsive to ASM or SR	[27,28]
ETL3	611630	Chr4q13.2-q21.3	AD	5-18	Cog, FBCTS, FIAS	Nor, T ea	Nor	MTLE	Responsive to ASM or SR	[32]
ETL4	611631	Chr9q21-q22	AD	0.58-63	Focal Mot; Cog, Sen, Aut, FIAS, FBCTS	Nor	Nor	OTLE	Responsive to ASM or SR; migraine 5/Mo – 2/y	[33]
ETL5	614417	CPA6	AR	0.75-5	FS, FBECTS, FIAS	T ea	T atr, HS	TLE	Responsive to ASM or SR	[36]
ETL5	614417	CPA6	AD	1.25-23	FS	-	T atr	TLE	Drug-refractory	[36]
ETL6	615697	Chr3q25-q26	AD	3-46	FS, FIAS, Cog, Sen, Aut, FBTCS	Nor, T ea, sa	Nor	MTLE	Responsive to ASMs	[37]
ETL7	616436	RELN	AD	8-40	Vis, Aud, FBECTS, FIAS	T ea	Nor	LTLE	Responsive to ASM or SR	[38,40]
ETL8	616461	GAL	AD	13	FIAS, Cog, Sen, Aut, FBTCS	T ea	Nor	TLE	Responsive to ASM	[43]
ETL9	-	DEPDC5	AD	8-13	FS,Cog, Sen,focal Mot; FBECTS	T ea	Nor	TLE	Responsive to ASM	[44,46,47]
ETL10	-	MICAL-1	AD	6-30	Aud, Aph, FBECTS	T or FT ea	Nor	LTLE	Responsive to ASM	[48]
ETL11	-	SCN1A	AD	10-13	FS, FIAS, Aut; focal Mot, FBECTS	T ea	HS	TLE	Responsive to ASM	[50]

AD: Autosomal dominant; Aph: Aphasia; AR: Autosomal recessive; ASMs: Anti-seizure medications; atr: Atrophy; Aud: Auditory; Aut: Autonomic; Chr: Chromosome; CPA6: Carboxypeptidase A6; Cog: Cognitive; DEPDC5: DEP domain containing 5; ea: Epileptic activity; EEG: Electroencephalogram; Emo: Emotional; ETL: Epilepsy, familial temporal lobe; FBTCS: Focal to bilateral tonic-clonic seizures; FIAS: Focal impaired awareness seizure; FS: Febrile seizures; FT: Frontotemporal; GAL: Galanin and GMAP prepropeptide; HM: Hippocampal malrotation; HS: Hippocampal sclerosis; LGI1: Leucine-rich glioma inactivated-1; LTLE: Lateral TLE; MICAL-1: Microtubule associated monooxygenase, calponin and LIM domain containing 1; MTLE: Mesial TLE; Mot: Motor; MRI: Magnetic Resonance Imaging; Nor: Normal; OTLE: Occipitotemporal lobe Epilepsy; RELN: Reelin; sa: Slow activity; SCN1A: Sodium voltage-gated channel alpha subunit 1; Sen: Sensory; SR: Spontaneous remission; T: Temporal; TLE: Temporal lobe Epilepsy; Vis: Visual.

Citation: Liu C, Qiao XZ, Wei ZH, Cao M, Wu ZY, Deng YC. Molecular typing of familial temporal lobe epilepsy. World J Psychiatry 2022; 12(1): 98-107
URL: https://www.wjgnet.com/2220-3206/full/v12/i1/98.htm
DOI: https://dx.doi.org/10.5498/wjp.v12.i1.98