In:
American Journal of Medical Genetics Part A, Wiley, Vol. 176, No. 6 ( 2018-06), p. 1443-1448
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v176.6
DOI:
10.1002/ajmg.a.38717
Language:
English
Publisher:
Wiley
Publication Date:
2018
detail.hit.zdb_id:
1493479-6
SSG:
12