Genetic Epilepsy

Gene: LRPPRC

I don't know

PMID: 21266382
- Cohort of patients with French-Canadian Leigh disease (MIM#220111). 55 of 56 patients were homozygous for the A354V mutation in LRPPRC.
- Condition is distinct for metabolic crises. 6/44 affected patients experienced seizures.
- During presentation of metabolic crises, 5 patients presented seizures. During neurological crises, 9 patients presented seizures.
- 10 patients were living at the time of the study and have had a stable clinical course (since puberty), with mild ID and seizures (3/6 patients).

PMID: 26510951
- 10 individuals (7 unrelated families) with recessive LRPPRC variants (identified via WES and candidate gene sequencing) with phenotypes resembling French-Canadian Leigh syndrome patients.
- 1/10 patients compound heterozygous for premature termination variants, experienced several brief generalised seizures and developed a severe encephalopathy and persistent metabolic acidosis.
- Functional characterisation of patients' fibroblasts and skeletal muscle homogenates (homozygous p.Arg1276_Lys1300del and compound heterozygous p.Glu497*; p.Gly1050Argfs*4 individuals) showed decreased levels of mutant LRPPRC protein and impaired Complex IV enzyme activity, associated with abnormal COX assembly and reduced steady-state levels of numerous oxidative phosphorylation subunits.

PMID: 38046674
- Case report; 1 individual with novel homozygous splice donor variant (c.469+2T>A) in LRPPRC causing Leigh syndrome with epilepsy. Parents are consanguineous and are unaffected carriers. The affected child had intrauterine developmental delays, absence of the corpus callosum and was suspected of exhibiting neurodevelopmental disorder, specifically experiencing seizures.

PMID: 29152527
- 1 individual with novel compound heterozygous missense variants with mild French-Canadian Type Leigh Syndrome. Developed refractory multifocal epilepsy at 3 years of age requiring multiple antiepileptics and ketogenic diet to control his seizures.
Sources: Literature

Created: 20 Dec 2023, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) (MIM#220111)

Publications

• 21266382
• 26510951
• 38046674
• 29152527