Genetic Epilepsy

Gene: KCNA1

Green List (high evidence)

KCNA1 variants also reported in patients with epileptic encephalopathies alone. Epilepsy or seizure-related variants tend to cluster in the S1,S2,S5,S6 transmembrane domains and in the pore domain.

Created: 14 Mar 2022, 7:03 a.m. | Last Modified: 14 Mar 2022, 7:03 a.m.

Panel Version: 0.11342

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, MONDO:0005027, KCNA1-related

Publications

• 32316562

Green List (high evidence)

KCNA1 variants reported in patients with episodic ataxia type 1 with epilepsy and seizures. KCNA1 variants also reported in patients with epileptic encephalopathies alone. Epilepsy or seizure-related variants tend to cluster in the S1,S2,S5,S6 transmembrane domains and in the pore domain.
Sources: Expert list

Created: 17 Oct 2021, 11:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy; seizures; epileptic encephalopathies; episodic ataxia type 1 and epilepsy

Publications

• PMID: 32316562

Green List (high evidence)

Both LoF and DN reported. The one truncating (not NMD) reported has been shown to cause DN, whereas missense have been associated with both LoF and DN (PMID: 11026449; OMIM).

Created: 4 Feb 2020, 9:10 p.m. | Last Modified: 4 Feb 2020, 9:10 p.m.

Panel Version: 0.46

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia/myokymia syndrome 160120 AD

Publications

• 11026449

Mode of pathogenicity
Other