Genetic Epilepsy

Gene: LNPK

Green List (high evidence)

3rd family (consanguineous) with 1 affected individual reported. WES revealed a novel homozygous frameshift variant (p.D257fs*31) in exon 10 of the LNPK gene (detected as a heterozygote in healthy parents). 2 previous consanguineous families (with 3 affected individuals) reported with some functional evidence: mRNA expression decreased in the fibroblast tissues of the affected individuals with homozygous variants and healthy heterozygous parents, with a greater rate in individuals with homozygous variants. There was no full-length protein in the affected individuals with homozygous variants detected using immunohistochemical studies. Common clinical manifestations in all cases included developmental delay, movement disorders, epilepsy, corpus callosum anomalies, and regression phenotype.

Created: 29 Aug 2022, 10:36 p.m. | Last Modified: 29 Aug 2022, 10:36 p.m.

Panel Version: 0.1644

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090

Publications

• PMID: 35599435

Green List (high evidence)

Three individuals from two unrelated consanguineous families with bi-allelic LoF variants, some functional data.

Created: 24 Jan 2020, 4:47 a.m. | Last Modified: 24 Jan 2020, 4:47 a.m.

Panel Version: 0.339

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090

Publications

• 30032983