WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Background

Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling.

Methods

By combining array comparative genomic hybridisation, targeted Sanger sequencing and next generation sequencing, we identified five further patients...