Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

American Journal of Human Genetics

Volumn 96, Issue 5, 2015, Pages 808-815

  Carvill, Gemma L ^a   McMahon, Jacinta M ^b   Schneider, Amy ^b   Zemel, Matthew ^a   Myers, Candace T ^a   Saykally, Julia ^a   Nguyen, John ^a   Robbiano, Angela ^c   Zara, Federico ^c   Specchio, Nicola ^d   Mecarelli, Oriano ^e   Smith, Robert L ^f   Leventer, Richard J ^b,g   Møller, Rikke S ^h,i   Nikanorova, Marina ^h   Dimova, Petia ^j   Jordanova, Albena ^k,l,m   Petrou, Steven ⁿ   Helbig, Ingo ^o,p   Striano, Pasquale ^q   Weckhuysen, Sarah ^k,l,r   Berkovic, Samuel F ^b   Scheffer, Ingrid E ^b,n   Mefford, Heather C ^a   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c G GASLINI INSTITUTE   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f UNIVERSITY OF NEWCASTLE   (Australia)

^g ROYAL CHILDREN'S HOSPITAL   (Australia)

^h DANISH EPILEPSY CENTRE   (Denmark)

ⁱ UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^j UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^k DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^l UNIVERSITY OF ANTWERP   (Belgium)

^m MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

ⁿ FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

^o CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^p UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^q UNIVERSITY OF GENOA   (Italy)

^r CNRS   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GABA TRANSPORTER 1; 4 AMINOBUTYRIC ACID CARRIER; SLC6A1 PROTEIN, HUMAN;

4 AMINOBUTYRIC ACID UPTAKE; ARTICLE; ATONIC SEIZURE; ELECTROPHYSIOLOGY; EPILEPSY; GENE MUTATION; HUMAN; MUTAGENESIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SPIKE WAVE; SYNAPSE; ANIMAL; GENERALIZED EPILEPSY; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MALE; MOUSE; MUTATION; MYOCLONUS EPILEPSY; PATHOLOGY;

MUS;

ANIMALS; EPILEPSIES, MYOCLONIC; EPILEPSY, GENERALIZED; GABA PLASMA MEMBRANE TRANSPORT PROTEINS; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MICE; MUTATION;

EID: 84929264219     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.02.016     Document Type: Article

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