A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

Kunio Kitamura, Masako Yanazawa, Noriyuki Sugiyama et al. · Nature Genetics · 2002 · 705 citations

Medicine, Genetics, Molecular Genetics +14

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

Petter Strømme, Marie Mangelsdorf, Marie Shaw et al. · Nature Genetics · 2002 · 432 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutations of <i>ARX</i> are associated with striking pleiotropy and consistent genotype–phenotype correlation

Mitsuhiro Kato, Soma Das, Kristin Petras et al. · Human Mutation · 2004 · 329 citations

Life Sciences, Genetics, Molecular Genetics +15

Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation

Vera M. Kalscheuer, Jiong Tao, Andrew J. Donnelly et al. · The American Journal of Human Genetics · 2003 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

T. Bienvenu · Human Molecular Genetics · 2002 · 286 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17