Genetic Epilepsy

Gene: SCN8A

Green List (high evidence)

LoF missense are associated with Cognitive impairment with or without cerebellar ataxia while GoF is associated with Epileptic encephalopathy, early infantile, 13
GoF is speculated for Seizures, benign familial infantile, 5 (OMIM)

Majority of Epileptic encephalopathy, early infantile, 13 variants are de novo. Very rarely inherited from a mosaic parent

Multiple hotspots across ion transport domains (Decipher)

Created: 29 Oct 2020, 10:40 p.m. | Last Modified: 29 Oct 2020, 10:40 p.m.

Panel Version: 0.5180

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Myoclonus, familial, 2 618364; Cognitive impairment with or without cerebellar ataxia 614306; Epileptic encephalopathy, early infantile, 13 614558; Seizures, benign familial infantile, 5 617080

Publications

• PMID 30615093
• 31904124

Mode of pathogenicity
Other

I don't know

PMID: 30842224; non-MECP2 probands with Rett-like syndromes categorised into 1) typical RTT, 2) atypical RTT, 3) RTT-like phenotype. De novo 1 famil.

Created: 20 Apr 2020, 4:57 a.m. | Last Modified: 20 Apr 2020, 4:57 a.m.

Panel Version: 0.657

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rett syndrome; Rett-like phenotypes

Publications

• PMID: 30842224

Green List (high evidence)

Note recent publication of bi-allelic variants causing epilepsy in three individuals from two families. Mono-allelic variants are typically GoF, whereas these variants were shown to be LoF. Parents are said to have had mild learning difficulties.

Created: 4 Jan 2020, 1:47 a.m. | Last Modified: 4 Jan 2020, 1:47 a.m.

Panel Version: 0.126

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 13, MIM# 614558; dominant and recessive

Publications

• 31625145

Mode of pathogenicity
Other