Genetic Epilepsy

Gene: ALG2

Red List (low evidence)

Note gene-disease association for either phenotype not well established. Of the two, CDG more likely to be associated with seizures, but no specific reports.

Created: 5 Dec 2023, 8:34 a.m. | Last Modified: 5 Dec 2023, 8:34 a.m.

Panel Version: 0.1982

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906

Red List (low evidence)

Red list on NHS panel app. Literature search shows one case with reported seizures although limited phenotype given at 1 year, patient was normal at birth apart from coloboma (Thiel 2003). no other cases on pubmed or literature wider search. Phenotype appears to present with varying onset of myasthenic syndrome with myopathic features. ALG2 not specifically linked with epilepsy phenotype in the literature the way other CDGS are. Developmental delay also a neurodevelopmental feature.
Sources: Literature, NHS GMS

Created: 4 Dec 2023, 11:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CONGENITAL MYASTHENIC SYNDROME - MIM # 616228; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii - MIM ## 607906

Publications

• (PMID:12684507
• 28733338
• 28007376)