Associated Papers
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Chatron N et al.
Brain : a Journal of Neurology, 2020
32282878 (PubMed )
Supplement: awaa085_supplementary_data.zip › awaa085-suppl_data › brain-2019-01328-File007.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1883.659
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Chen YZ et al.
Archives of Neurology, 2012
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