Genetic Epilepsy

Gene: CACNA1A

Green List (high evidence)

Variants in this gene are associated with multiple neurological phenotypes. More than 5 unrelated individuals reported with mono-allelic variants and DEE. Note report of bi-allelic variants in a single family.

Created: 13 Oct 2022, 5:31 a.m. | Last Modified: 13 Oct 2022, 5:31 a.m.

Panel Version: 0.1763

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 42, MIM# 617106

Publications

• 27476654

I don't know

Four newborns, all presenting with hypotonia, mild facial dysmorphic features, encephalopathy, and seizures were born
from consanguineous parents. Testing was only performed on two of the newborns in the family. A novel homozygous nonsense c.2767C>T p.(Arg932*) variant in the exon 19 of the CACNA1A gene (NM_001127221.1). Segregation analysis showed that both parents were heterozygous carriers and they were diagnosed with EA2.

Created: 1 Nov 2021, 4:53 a.m. | Last Modified: 1 Nov 2021, 4:53 a.m.

Panel Version: 0.9572

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• PMID: 34267336

Green List (high evidence)

Onset of episodic ataxia usually in childhood or adolescence.
Sources: Expert list

Created: 16 Apr 2020, 10:50 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia, type 2 MIM#108500