ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 98-105

  Cossée, Mireille ^a   Faivre, Laurence ^b   Philippe, Christophe ^c   Hichri, Heifa ^a   De Saint Martin, Anne ^a   Laugel, Vincent ^a   Bahi Buisson, Nadia ^d   Lemaitre, Jean François ^e   Leheup, Bruno ^c   Delobel, Bruno ^f   Demeer, Bénédicte ^a   Poirier, Karine ^d   Biancalana, Valérie ^a   Pinoit, Jean Michel ^g   Julia, Sophie ^h   Chelly, Jamel ^d   Devys, Didier ^a,i   Mandel, Jean Louis ^a,i,j  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b Medical University of Dijon   (France)

^c UNIVERSITY HOSPITAL OF NANCY   (France)

^d INSTITUT COCHIN   (France)

^e Centre hospitalier de Boulogne sur Mer   (France)

^f HÔPITAL SAINT VINCENT DE PAUL   (France)

^g HÔPITAL DU BOCAGE   (France)

^h HÔPITAL PELLEGRIN   (France)

ⁱ INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^j l'alimentation et l'Environnement   (France)

more..

Author keywords

ARX; Dystonia; Infantile epilepsy; XLMR

Indexed keywords

ALANINE; ARISTALESS RELATED HOMEOBOX PROTEIN; HOMEODOMAIN PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; FEMALE; FOCAL HAND DYSTONIA; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; WEST SYNDROME; X LINKED MENTAL RETARDATION;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DNA REPEAT EXPANSION; HOMEODOMAIN PROTEINS; HUMANS; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; PEDIGREE; PEPTIDES; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSCRIPTION FACTORS;

EID: 78650660455     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33785     Document Type: Article

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