Genetic Epilepsy

Gene: CPT1A

Green List (high evidence)

Well-established autosomal recessive metabolic disorder.

Association with seizures in 7 individuals in a cohort of 12 (the other 5 individuals were diagnosed through NBS so pre-symptomatic). The age of onset ranged from 6-22 months. Seizure onset was usually but not exclusively in the context of febrile illness with associated vomiting and/or diarrhoea.

Reports of seizures in infants with CPT1A deficiency in an Inuit/First Nations/Alaska Native cohort in Canada.

Created: 11 Dec 2023, 5:33 a.m. | Last Modified: 11 Dec 2023, 5:33 a.m.

Panel Version: 0.2019

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT deficiency, hepatic, type IA, MIM# 255120

Publications

• PMID: 34869124
• 20696606

Green List (high evidence)

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.

Well established gene-disease association.

Created: 4 May 2022, 10:12 a.m. | Last Modified: 4 May 2022, 10:12 a.m.

Panel Version: 0.13723

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT deficiency, hepatic, type IA, MIM# 255120

Publications

• 12189492
• 25778941
• 23430932

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Well established gene-disease association.

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycaemia usually occurring after fasting or illness. Onset is in infancy or early childhood.

Case report of presentation with seizures.
Sources: Expert Review

Created: 12 Oct 2021, 2:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CPT deficiency, hepatic, type IA, MIM# 255120

Publications

• 12189492
• 33565078