Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition
M Trivisano, M Rivera, A Terracciano, A Ciolfi… - Epilepsy & Behavior, 2020 - Elsevier
Abstract Seizure threshold 2 (SZT2) gene mutations have been associated with
developmental and epileptic encephalopathies (DEEs). Following a literature review, we
collected 22 patients and identified the main clinical features related to SZT2 variants that
are epilepsy with onset within the first years of life, intellectual disability (ID), macrocephaly
with dysmorphic facial features, corpus callosum (CC) shape abnormalities, and cortical
migration disorders. Moreover, we identified the c. 7825T> G homozygous missense variant …
developmental and epileptic encephalopathies (DEEs). Following a literature review, we
collected 22 patients and identified the main clinical features related to SZT2 variants that
are epilepsy with onset within the first years of life, intellectual disability (ID), macrocephaly
with dysmorphic facial features, corpus callosum (CC) shape abnormalities, and cortical
migration disorders. Moreover, we identified the c. 7825T> G homozygous missense variant …