Table 4.

Allelic Disorders

GeneDisorder(s)GeneReview / Reference
CABP4 1
  • Cone rod dystrophy
  • Retinitis pigmentosa
  • Leber congenital amaurosis
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview; Khan et al [2013]
CHRNA2 Benign familial infantile seizures Trivisano et al [2015]
DEPDC5
  • Familial focal epilepsies incl familial temporal lobe epilepsy & familial focal epilepsy w/variable foci
  • Rolandic epilepsy, unclassified focal childhood epilepsy, & focal epilepsy w/cortical dysplasia
 DEPDC5-Related Epilepsy
KCNT1
  • Epilepsy of infancy w/migrating focal seizures
  • Less common seizure phenotypes incl infantile spasms, Ohtahara syndrome, early myoclonic encephalopathy, leukodystrophy &/or leukoencephalopathy, focal epilepsy, & multifocal epilepsy
 KCNT1-Related Epilepsy
NPRL2
  • Familial focal epilepsy w/variable foci
  • Infantile spasms
Ricos et al [2016], Baldassari et al [2019]
NPRL3 Familial focal epilepsy w/variable foci Ricos et al [2016]
STX1B Fever-assoc epilepsy syndromes Schubert et al [2014]
1.

Biallelic variants are associated with retinal disease.

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

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