Ontology highlight
ABSTRACT:
SUBMITTER: El Halabi T
PROVIDER: S-EPMC7918305 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
Epilepsia open 20210107 1
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 ...[more]