WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation
Abstract
Epileptic encephalopathies are a group of disorders in which epileptiform abnormalities cause progressive deterioration in cerebral function. Genetic causes have been described in several of the epileptic encephalopathies, and many previously unknown genes have been identified. WW domain-containing oxidoreductase (WWOX) has recently been implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic...
Paper Details
Title
WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation
Published Date
Aug 9, 2018
Journal
Volume
39
Issue
11
Pages
1977 - 1980
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