Table 1.

Molecular Genetic Testing Used in Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy

Gene 1, 2Proportion of ADSHE Attributed to Pathogenic Variants in GeneProportion of Probands with a Pathogenic Variant 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
CABP4 Rare (only 1 pedigree reported) 6, 7Rare (only 1 pedigree reported) 6
CHRNA2 Rare 6, 8Rare 6, 8
CHRNA4 2.9% of sporadic cases 6, 8, 9
6.3% of familial cases 6, 9		2.9% of sporadic cases 6, 8, 9
6.3% of familial cases 6, 9
CHRNB2 Rare 6, 10Rare 6, 10
CRH Rare 6, 11Rare 6, 11
DEPDC5 3.9% of sporadic cases 6, 9,12
6.3% of familial cases 6, 9		2.9% of sporadic cases 6, 8, 9
6.3% of familial cases 6, 9		1 person w/intragenic deletion in DEPDC5 13
KCNT1 1.0% 6, 9, 141.0% 6, 9, 14
NRPL2 1.0% of sporadic cases 6, 9, 12
6.3% of familial cases 6, 9		1.0% of sporadic cases 6, 9, 12
6.3% of familial cases 6, 9
NRPL3 RareRare
STX1B Rare (only 1 pedigree reported)Rare (only 1 pedigree reported)
Unknown 14~90%
1.

Genes are listed in alphabetic order.

2.

See Table A. Genes and Databases for chromosome locus and protein.

3.

See Molecular Genetics for information on variants detected in these genes.

4.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

7.
8.

Reported in two families [Aridon et al 2006, Conti et al 2015].

9.
10.

10%-15% of individuals with a family history have pathogenic variants in subunits of the nicotinic acetylcholine receptor [Ferini-Strambi et al 2012].

11.
12.
13.
14.

From: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy

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