Genetic Epilepsy

Gene: PAX6

I don't know

PMID: 34200146: A case report of 1x male born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. They were heterozygous for a p.(S63C) variant.

PMID: 17417613: in a cohort of 78 individuals affected by aniridia; those with diverse ocular manifestations; and those with Peters' anomaly, and unaffected relatives. 1 large family with congenital ocular abnormalities, 14/36 had a PAX6 p.(S74G) variant. Most affected patients of this family had minor or major bilateral foveal hypoplasia. At least four individuals of this family had epilepsy, while others displayed variable neurological deficits along with severe cognitive deficiencies.

PMID: 12731001: In a cohort of 24 individuals with ocular abnormalities and defined PAX6 variants, 4x individuals with a single or recurrent unprovoked seizures. 1x individual had isolated unilateral polymicrogyria with a C-terminal extension, gave a history of frequent complex partial seizures compatible with temporal lobe epilepsy. Variant was inherited from mother who had a subtle gyral abnormality of the left temporal lobe, most probably polymicrogyria but she did not give a history of seizure. For the other patients it is not clear which are associated with the epilepsy patients.
Sources: Literature

Created: 20 Dec 2023, 1:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Aniridia (MIM#106210)

Publications

• 34200146
• 17417613
• 12731001