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Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
Am J Med Genet A; 176(6): 1443-1448, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29696782
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.

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Idioma: Inglês Revista: Am J Med Genet A Assunto da revista: Genética Médica Ano de publicação: 2018 Tipo de documento: Artigo