Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation
Top Cited Papers
- 1 June 2003
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 72 (6) , 1401-1411
- https://doi.org/10.1086/375538
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humansNature Genetics, 2002
- Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion SyndromeAmerican Journal of Human Genetics, 2001
- Infantile spasmsPediatric Neurology, 2001
- Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocationsCytogenetic and Genome Research, 2000
- Confirmation of linkage in X‐linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3‐Xp22.1Clinical Genetics, 1999
- Identification and Characterization of a Novel Serine– Threonine Kinase Gene from the Xp22 RegionGenomics, 1998
- Transcript Map of a 900-kb Genomic Region in Xp22.1–p22.2: Identification of 12 Novel GenesGenomics, 1998
- Gene Structure and Subcellular Localization of FMR2, a Member of a New Family of Putative Transcription ActivatorsGenomics, 1997
- The X‐linked infantile spasms syndrome (Mim 308350) maps to Xp 11.4–Xpter in two pedigreesAnnals of Neurology, 1997
- The Distribution and Biochemical Properties of a Cdc2‐Related Kinase, KKIALRE, in Normal and Alzheimer BrainsJournal of Neurochemistry, 1995