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Paper Details

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Mol Psychiatry
44
2018
Behavioral and psychiatric disorders, CIC-4, CLC family, CLCN4, CLCN4 variants, CLCN4-related disorder, Epilepsy, Intellectual disability, X, X-linked gene CLCN4, X-linked intellectual disability, Xenopus laevis, Xenopus laevis oocytes, autistic features, blood, chloride, epilepsy, epileptic encephalopathy, hydrogen, missense variants, mood disorders, movement disorders, neurological symptoms, obsessive-compulsive behaviors, seizure disorders, single-exon deletion, spasticity, syndromic intellectual disability, white matter changes
Author NameAffiliation
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Julia WynnColumbia University
Luis RohenaSan Antonio Military Medical Center
Ute FischerMax Planck Institute for Molecular Genetics
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