Genetic Epilepsy

Gene: DARS2

I don't know

PMID: 34104671 - single case report of a child with congenital microcephaly, spastic quadriplegia, and severe epilepsy. Phenotypic overlap with existing cases of LBSL is uncertain with this being only the second reported case of epilepsy and the first with microcephaly. Magnetic resonance spectroscopy (MRS) was not performed. Pathogenicity was predicted based on in silicos, conservation, location in a critical domain, and an ajacent pathogenic variant. Seizure onset was at age 4 months consisting of tonic seizures. By age 3 years there were frequent myoclonic jerks and choreiform movements of the hands and tongue. The first generalized tonic-clonic seizure was at age 9 years. She was never diagnosed with infantile spasms.

Created: 17 Dec 2023, 1:12 p.m. | Last Modified: 17 Dec 2023, 1:12 p.m.

Panel Version: 0.2038

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

Publications

• PMID: 34104671

Red List (low evidence)

Well established gene-disease association. Affected individuals typically present with slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, sometimes with a mild cognitive deficit or decline. Single individual reported with seizures in PMID 30352563.
Sources: Literature

Created: 18 Oct 2021, 3:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105

Publications

• 17384640
• 15002045
• 16788019
• 30352563