Associated Papers
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Morgan NV et al.
Brain Communications, 2021
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Neuray C et al.
Brain : a Journal of Neurology, 2020
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Chatron N et al.
Brain : a Journal of Neurology, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Mutation screen of the GAD2 gene and association study of alcoholism in three populations.
Lappalainen J et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007
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