Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

Neurology

Volumn 69, Issue 5, 2007, Pages 427-433

  Guerrini, R ^a,b,i   Moro, F ^b   Kato, M ^d   Barkovich, A J ^e   Shiihara, T ^d   McShane, M A ^g   Hurst, J ^h   Loi, M ^c   Tohyama, J ^d   Norci, V ^a   Hayasaka, K ^d   Kang, U J ^f   Das, S ^f   Dobyns, W B ^f  

^a UNIVERSITY OF FLORENCE   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c BROTZU HOSPITAL   (Italy)

^d YAMAGATA UNIVERSITY   (Japan)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF CHICAGO   (United States)

^g OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^h CHURCHILL HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARX PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ARISTALESS RELATED HOMEOBOX; ARTICLE; CHILD; DYSKINESIA; DYSTONIA; GENE MUTATION; GENETIC CODE; HOMEOBOX; HUMAN; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PUTAMEN; QUADRIPLEGIA; RECURRENT DISEASE; TRINUCLEOTIDE REPEAT; ATROPHY; BASAL GANGLION; CASE REPORT; CONGENITAL MALFORMATION; GENETIC MARKER; GENETIC SCREENING; GENETICS; GENOTYPE; METABOLISM; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD;

ADOLESCENT; ALANINE; ATROPHY; BASAL GANGLIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTONIC DISORDERS; GENETIC MARKERS; GENETIC SCREENING; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MUTATION; PEDIGREE; PHENOTYPE; SPASMS, INFANTILE; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 34548065480     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000266594.16202.c1     Document Type: Article

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