Early onset or syndromic epilepsy

Gene: LMAN2L

I don't know

PMID: 26566883 (2015) - One consanguineous family with 7 individuals with ID and epilepsy. Five individuals presented mild epileptic seizures in the first year of life, until the age of 5 years when seizures stopped spontaneously without any medication. Typical seizure episodes lasted for 3 to 5 min. Epilepsy was also reported in two other family members, who died at the age of 7 and 16 years and therefore could not be included in the study. A homozygous LMAN2L missense variant (c.158 G>A, p.R53Q) segregated with disease in family, and unaffected family members were heterozygous variant carriers. No functional studies.

PMID: 31020005 (2019) - One non-consanguineous family with 4 affected, harbouring a heterozygous frameshift LMAN2L variant (c.1073delT, p.Phe358Serfs*16) which segregated with disease in the family. All suffered generalised tonic‐clonic seizures in childhood, however all had undergone remission with normalized EEG by adolescence. Functional studies show the variant eliminates LMAN2L's endoplasmic reticulum retention signal and mislocalizes the protein from that compartment to the plasma membrane.
Sources: Literature

Created: 31 Jul 2020, 12:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Epilepsy

Publications

• 31020005
• 26566883