Early onset or syndromic epilepsy

Gene: CACNA1H

PMID:41272325 (2026) reported a 4-year-old boy diagnosed with epilepsy with myoclonic-atonic seizures, and identified with two missense variants in CACNA1H. One was a novel variant, p.Asp949His, while the other was a known variant, p.Arg788Cys (previously reported in heterozygous state in patients from PMID:1289167).

Created: 18 Jun 2026, 1:41 p.m. | Last Modified: 18 Jun 2026, 1:41 p.m.

Panel Version: 9.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 41272325

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

I don't know

Many variants have been associated with various epilepsy phenotypes, e.g. PMID 17696120, 15048902 report an association with generalised epilepsy

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 ; {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 ; Hyperaldosteronism, familial, type IV, 617027

Publications

• 15048902

Red List (low evidence)

Susceptibility gene rather than true monogenic disease.

Created: 8 Aug 2018, 3:36 a.m.

I don't know

Comment on publications: PMID 32227660 presents further evidence refuting a monogenic contribution of this gene to epilepsy.

Created: 21 Apr 2020, 2:15 p.m. | Last Modified: 21 Apr 2020, 2:15 p.m.

Panel Version: 2.39

Associated with phenotype in OMIM and as a possible G2P. At least four variants have been reported in {Epilepsy, childhood absence, susceptibility to, 6} 611942 and two in {Epilepsy, childhood absence, susceptibility to, 6} 611942. This gene is rated as amber as variants do not always segregate with disease.

Created: 19 Dec 2017, 4:07 p.m.

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

Phenotypes
Hyperaldosteronism, familial, type IV 617027; {Epilepsy, childhood absence, susceptibility to, 6} 611942; {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942

Publications

• 12891677
• 12891677

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)