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Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy
Author(s) -
Pizzino Amy,
Whitehead Matthew,
Sabet Rasekh Parisa,
Murphy Jennifer,
Helman Guy,
Bloom Miriam,
Evans Sarah H.,
Murnick John G.,
Conry Joan,
Taft Ryan J.,
Simons Cas,
Vanderver Adeline,
Adang Laura A.
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38717
Subject(s) - macrocephaly , exome sequencing , leukoencephalopathy , dravet syndrome , epilepsy , mutation , phenotype , exome , medicine , compound heterozygosity , encephalopathy , genetics , biology , neuroscience , gene , pathology , disease
Early‐onset epileptic encephalopathies (EOEEs) are a genetically heterogeneous collection of severe epilepsies often associated with psychomotor regression. Mutations in SZT2 , a known seizure threshold regulator gene, are a newly identified cause of EOEE. We present an individual with EOEE, macrocephaly, and developmental regression with compound heterozygous mutations in SZT2 as identified by whole exome sequencing. Serial imaging characterized the novel finding of progressive loss of central myelination. This case expands our clinical understanding of the SZT2 ‐phenotype and emphasizes the role of this gene in the diagnostic investigation for EOEE and leukoencephalopathies.