Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations.

ABSTRACT:

Objective

Systematic investigation of individuals with intellectual disability after genetic diagnosis can illuminate specific phenotypes and mechanisms relevant to common neurodevelopmental disorders. We report the neurological, cognitive and neuroanatomical characteristics of nine males from three families with loss-of-function mutations in ZDHHC9 (OMIM #300799).

Methods

All known cases of X-linked intellectual disability (XLID) due to ZDHHC9 mutation in the United Kingdom were invited to participate in a study of neurocognitive and neuroimaging phenotypes.

Results

Seven out of nine males with ZDHHC9 mutations had been diagnosed with epilepsy, exceeding epilepsy risk in XLID comparison subjects (P = 0.01). Seizure histories and EEG features amongst ZDHHC9 mutation c

SUBMITTER: Baker K 

PROVIDER: S-EPMC4435709 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature