Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: Evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)

Acta Neuropathologica

Volumn 116, Issue 4, 2008, Pages 453-462

  Okazaki, Shin ^a   Ohsawa, Maki ^b   Kuki, Ichiro ^a   Kawawaki, Hisashi ^a   Koriyama, Takeshi ^a   Ri, Shingou ^a   Ichiba, Hiroyuki ^a   Hai, Eishu ^a   Inoue, Takeshi ^a   Nakamura, Hiroaki ^a   Goto, Yu Ichi ^b   Tomiwa, Kiyotaka ^a,c   Yamano, Tsunekazu ^d   Kitamura, Kunio ^b   Itoh, Masayuki ^b  

^a OSAKA CITY GENERAL HOSPITAL   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c KYOTO UNIVERSITY   (Japan)

^d Department of Pediatrics   (Japan)

Author keywords

Aristaless related homeobox gene (ARX); Interneuron; X linked lissencephaly with abnormal genitalia (XLAG)

Indexed keywords

ARISTALESS RELATED HOMEOBOX PROTEIN; CALRETININ; CARBAMAZEPINE; GENE PRODUCT; GENOMIC DNA; GLUTAMATE DECARBOXYLASE; UNCLASSIFIED DRUG; ZONISAMIDE;

ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CHRONIC DIARRHEA; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DISEASE PREDISPOSITION; GABAERGIC SYSTEM; GANGLION; GENE DISRUPTION; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; HYPOPLASIA; IMMUNOCYTOCHEMISTRY; IMMUNOHISTOCHEMISTRY; INFANT; INTELLIGENCE QUOTIENT; INTERNEURON; INTRACTABLE EPILEPSY; MALE; MICROPENIS; MILLER DIEKER SYNDROME; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NEOCORTEX; NEUROPATHOLOGY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RESPIRATORY FAILURE; SUBVENTRICULAR ZONE; WHITE MATTER; X LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA;

ADULT; AMINO ACID SEQUENCE; CALCIUM-BINDING PROTEIN, VITAMIN D-DEPENDENT; CELL MOVEMENT; CHOLECYSTOKININ; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; FEMALE; GAMMA-AMINOBUTYRIC ACID; GENITALIA, MALE; GLUTAMATE DECARBOXYLASE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INTERNEURONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEOCORTEX; NEUROPEPTIDE Y; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 51849093485     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-008-0382-2     Document Type: Article

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