Cytogenomic epileptology

Table 3 Chromosomal loci and genes associated with autosomal dominant lateral temporal lobe epilepsy and autosomal dominant nocturnal frontal lobe epilepsy

Chromosomal loci	Phenotype	Disease MIM*	Gene/Locus	Gene/Locus MIM	Gene function
Autosomal dominant lateral temporal lobe epilepsy
3q25-q26	Epilepsy, familial temporal lobe, 6	615697	ETL6	–	–
4q13.2-q21.3	Epilepsy, familial temporal lobe, 3	611630	ETL3	–	–
7q22.1	Epilepsy, familial temporal lobe, 7	616436	RELN	600514	Neuronal migration
8q13.2	Epilepsy, familial temporal lobe, 5^	614417	CPA6	609562	Carboxypeptidase
9q21-q22	Epilepsy, familial temporal lobe, 4	611631	ETL4	–	–
10q23.33	Epilepsy, familial temporal lobe, 1	600512	LGI1	604619	Glutamate system
11q13.2	Epilepsy, familial temporal lobe, 8	616461	GAL	137035	Neuropeptide
12q22-q23.3	Epilepsy, familial temporal lobe, 2	608096	ETL2	–	–
Autosomal dominant nocturnal frontal lobe epilepsy
1q21.3	Epilepsy, nocturnal frontal lobe, 3**	605375	CHRNB2	118507	Nicotinic acetylcholine receptor beta-2 subunit
8p21.2	Epilepsy, nocturnal frontal lobe, type 4	610353	CHRNA2	118502	Neuronal nicotinic cholinergic receptor alpha-2 subunit
9q34.3	Epilepsy nocturnal frontal lobe, 5	615005	KCNT1	608167	Sodium-activated potassium channel
15q24	Epilepsy, nocturnal frontal lobe, type 2	603204	ENFL2	–	–
20q13.33	Epilepsy, nocturnal frontal lobe, 1	600513	CHRNA4	118504	Neuronal nicotinic acetylcholine receptor alpha-4 subunit

^*—Mendelian inheritance in Man (https://omim.org/); ^—autosomal recessive inheritance is reported, as well; **—autosomal dominant inheritance is uncertain;

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