X-Linked mental retardation and epilepsy: Pathogenetic significance of ARX mutations

Brain and Development

Volumn 25, Issue 3, 2003, Pages 161-165

  Hirose, Shinichi ^a   Mitsudome, Akihisa ^a  

^a FUKUOKA UNIVERSITY   (Japan)

Author keywords

Cognitive function; Development; Dystonia; Genetics; Infantile spasms; Partington syndrome; Psychomotor retardation; X Linked mental retardation; X Linked West syndrome

Indexed keywords

HOMEODOMAIN PROTEIN; PROTEIN ARX; UNCLASSIFIED DRUG;

ARX GENE; COGNITION; DISEASE ASSOCIATION; EPILEPSY; GENE; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; HUMAN; MENTAL DEFICIENCY; PATHOGENESIS; PHENOTYPE; SHORT SURVEY; WEST SYNDROME; X CHROMOSOME LINKAGE;

EID: 0037384953     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(02)00169-9     Document Type: Short Survey

References (17)

1. Chelly J., Mandel J.L. Monogenic causes of X-linked mental retardation. Nat Rev Genet. 2:2001;669-680.
2. Chiurazzi P., Hamel B.C., Neri G. XLMR genes: update 2000. Eur J Hum Genet. 9:2001;71-81.
3. Claes L., Del-Favero J., Ceulemans B., Lagae L., Van Broeckhoven C., De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 68:2001;1327-1332.
4. Hirose S., Okada M., Yamakawa K., Sugawara T., Fukuma G., Ito M., et al. Genetics abnormalities underlying familial epilepsy syndromes. Brain Dev. 24:2002;211-222.
5. Strømme P., Mangelsdorf M.E., Shaw M.A., Lower K.M., Lewis S.M., Bruyere H., et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 30:2002;441-445.
6. Strømme P., Mangelsdorf M.E., Scheffer I.E., Gecz J. Infantile spasms, dystonia, and other phenotypes caused by mutations in Aristaless, a novel X-linked homeobox gene. Brain Dev. 24:2002;266-268.
7. Bienvenu T., Poirier K., Friocourt G., Bahi N., Beaumont D., Fauchereau F., et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet. 11:2002;981-991.
8. Hirose S., Okada M., Kaneko S., Mitsudome A. Are some idiopathic epilepsies disorders of ion channels?: a working hypothesis. Epilepsy Res. 41:2000;191-204.
9. Morante-Redolat J.M., Gorostidi-Pagola A., Piquer-Sirerol S., Saenz A., Poza J.J., Galan J., et al. Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet. 11:2002;1119-1128.
10. Kalachikov S., Evgrafov O., Ross B., Winawer M., Barker-Cummings C., Boneschi F.M., et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet. 30:2002;335-341.
11. Hedera P., Alvarado D., Beydoun A., Fink J.K. Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. Ann Neurol. 51:2002;45-50.
12. Garcia C.C., Buddles M.R.H., Seager M., Goodship J.A. A family with X-linked epilepsy mapping to Xp11-Xq13. Am J Hum Genet. 65:1999;A250.
13. Chudley A.E., Tackels D.C., Lubs H.A., Arena J.F., Stoeber W.P., Kovnats S., et al. X-Linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between Xq21.33 and Xq23. Am J Med Genet. 85:1999;255-262.
14. Armfield K., Nelson R., Lubs H.A., Hane B., Schroer R.J., Arena F., et al. X-Linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. Am J Med Genet. 85:1999;236-242.
15. Lubs H., Abidi F., Bier J.A., Abuelo D., Ouzts L., Voeller K., et al. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28. Am J Med Genet. 85:1999;243-248.
16. Dobyns W.B., Berry-Kravis E., Havernick N.J., Holden K.R., Viskochil D. X-Linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 86:1999;331-337.
17. Homfray T., Holland T., Patton M. A new X-linked mental retardation syndrome. Clin Dysmorphol. 4:1995;289-293.