Table 8.

Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy: Gene-Specific Laboratory Considerations

Gene 1Special Consideration
CABP4 Only 1 variant, c.464G>A, has been reported.
CHRNA2 2Located w/in transmembrane 1 & 2
CHRNA4 2Mainly located w/in transmembrane 2
CRHNB2 2Mainly located w/in transmembrane 2 & 3
CRH Only has 2 exons, & the 1st is noncoding. Variants in promotor region (e.g., c.-365G>C, c.-669C>A 3) have been identified in ADSHE that may not be detected by standard exome sequencing.
DEPDC5 4Pathogenic variants are located in protein-coding region.
KCNT1 5Variants identified in persons w/ADSHE cluster in regulators of potassium (RCK) domains of channel protein.
NPRL2 4Pathogenic variants are located throughout protein-coding region.
NPRL3 4Pathogenic variants are located throughout protein-coding region.

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

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