A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11
- 1 November 1999
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 65 (5) , 1406-1412
- https://doi.org/10.1086/302638
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Discovery of Three Novel Orphan G-Protein-Coupled ReceptorsGenomics, 1999
- Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitorHuman Molecular Genetics, 1998
- Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.Journal of Medical Genetics, 1998
- HPRT-APRT-deficient mice are not a model for lesch-nyhan syndromeHuman Molecular Genetics, 1996
- A common molecular basis for three inherited kidney stone diseasesNature, 1996
- Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1Nature Genetics, 1994
- A calcium channel mutation causing hypokalemic periodic paralysisHuman Molecular Genetics, 1994
- A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysisNature, 1991
- Linkage studies with the gene for an X‐linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)American Journal of Medical Genetics, 1988
- A new X‐linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafnessAmerican Journal of Medical Genetics, 1984