A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.

ABSTRACT: Seizure threshold-2 (SZT2) gene variants have been associated with a decrease in seizure threshold resulting in variable phenotypic expressions ranging from mild-moderate intellectual disabilities without seizures, to an early-onset epileptic encephalopathy with severe cognitive impairment. In addition, hypotonia and distinctive facial dysmorphism, including a high forehead and to a lesser extent ptosis and down-slanting palpebral fissures, were present in the majority. We herein report a novel SZT2 variant in one of two siblings both diagnosed with epilepsy of infancy with migrating focal seizures (EIMFS). This report is the fourth to document a possible familial case in EIMFS, a condition that was not previously associated with SZT2 variant. This report expands the phenotypic expression

SUBMITTER: El Halabi T 

PROVIDER: S-EPMC7918305 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature