3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3061-3068

  Dikow, Nicola ^a   Maas, Bianca ^a   Karch, Stephanie ^b   Granzow, Martin ^a   Janssen, Johannes W G ^a   Jauch, Anna ^a   Hinderhofer, Katrin ^a   Sutter, Christian ^a   Schubert Bast, Susanne ^b   Anderlid, Britt Marie ^c   Dallapiccola, Bruno ^d   Van der Aa, Nathalie ^e   Moog, Ute ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Ataxia, epilepsy; GABA transporter; Intellectual disability; Microdeletion 3p25.3

Indexed keywords

SULTIAME; VALPROIC ACID; 4 AMINOBUTYRIC ACID CARRIER; SLC6A1 PROTEIN, HUMAN; SLC6A11 PROTEIN, HUMAN;

ANTICONVULSANT THERAPY; ARTICLE; ATRIOVENTRICULAR SEPTAL DEFECT; BRACHYCEPHALY; CASE REPORT; CHILD; CHROMOSOME 3P; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; ELECTROCARDIOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GLIOSIS; HAND MOVEMENT; HUMAN; HYPOTROPHY; INFANT; INTELLECTUAL IMPAIRMENT; MALE; METAPHASE; MICROARRAY ANALYSIS; MICROCEPHALY; MOTOR DYSFUNCTION; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYDACTYLY; PRIORITY JOURNAL; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SLC6A1 GENE; SLC6A11 GENE; STEREOTYPY; WHITE MATTER LESION; CHROMOSOME 3; CHROMOSOME ABERRATION; DEFICIENCY; GENETICS; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 3; EPILEPSY; FEMALE; GABA PLASMA MEMBRANE TRANSPORT PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; KARYOTYPING; MALE; STEREOTYPED BEHAVIOR;

EID: 84911059239     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36761     Document Type: Article

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