Genetic Epilepsy

Gene: ATP5A1

I don't know

Reviewed as discordant with genetic epilepsy gene list provided by Scheffer group. No new literature since last review, none of the 3 cases in PMID: 34954817 had seizures. Recommend remain Amber.

Created: 11 Dec 2023, 1:50 a.m. | Last Modified: 11 Dec 2023, 1:50 a.m.

Panel Version: 0.2019

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MIM#620358

Publications

• PMID: 34954817

I don't know

PMID: 34954817 reports three individuals with de novo monoallelic missense variants. One of these is the recurrent p.(Arg207His) variant while the other two variants are different substitutions. The three patients presented with a variable phenotypes: (1) a 14-year-old girl who presented during the first few months of life with developmental delay, failure-to-thrive, and lactic acidosis. She recovered and had no persistent neurologic phenotype; (2) a 17-year-old boy with psychomotor delay, intellectual disability, ataxia, spastic paraparesis, and dystonia; (3) a 12-year-old girl with psychomotor retardation, spastic tetraparesis, generalized dystonia, absent speech, swallowing problems, and increased blood lactate concentrations. Enzymatic investigations of muscle tissue from patient 1 showed a decrease in ATPase activity.

Created: 7 Jan 2022, 5:57 a.m. | Last Modified: 7 Jan 2022, 5:57 a.m.

Panel Version: 0.10563

PMID: 34483339; an identical de novo variant (p.(Arg207His)) identified in 3 unrelated neonates presenting with feeding intolerance, failure to thrive, hyperammonemia and lactic acidemia. Although subclinical biochemical abnormalities persisted in each case, the major clinical symptoms appeared to remit by late infancy in all cases.

Created: 3 Dec 2021, 3:41 a.m. | Last Modified: 3 Dec 2021, 3:41 a.m.

Panel Version: 0.10026

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia

Publications

• PMID: 34954817

I don't know

Comment when marking as ready: HGNC approved name: ATP5F1A

Created: 3 May 2020, 3:33 a.m. | Last Modified: 3 May 2020, 3:33 a.m.

Panel Version: 0.690

Two unrelated families.

Created: 7 Jan 2020, 8:03 a.m. | Last Modified: 7 Jan 2020, 8:03 a.m.

Panel Version: 0.169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228

Publications

• 23599390