Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms

Brain and Development

Volumn 31, Issue 6, 2009, Pages 469-472

  Shinozaki, Yuko ^a   Osawa, Maki ^a,b   Sakuma, Hiroshi ^a   Komaki, Hirofumi ^a   Nakagawa, Eiji ^a   Sugai, Kenji ^a   Sasaki, Masayuki ^a   Goto, Yuichi ^a,b  

^a National Center of Neurology and Psychiatry   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

ARX gene; Dystonia; Infantile spasms; Mental retardation

Indexed keywords

ALANINE;

ARISTALESS RELATED HOMEOBOX; ARTICLE; CASE REPORT; CHILD; DYSTONIA; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMEOBOX; HUMAN; INFANTILE SPASM; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; TONIC SEIZURE;

BRAIN; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA REPEAT EXPANSION; DYSTONIC DISORDERS; EPILEPSY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; MUTATION; PEPTIDES; PHENOTYPE; SPASMS, INFANTILE; TRANSCRIPTION FACTORS;

EID: 67349115696     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2008.08.006     Document Type: Article

References (10)

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