Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Human Molecular Genetics

Volumn 26, Issue 21, 2017, Pages 4278-4289

  Farhan, Sali M K ^a,b   Nixon, Kevin C J ^b   Everest, Michelle ^a,b   Edwards, Tara N ^b   Long, Shirley ^b   Segal, Dmitri ^b   Knip, Maria J ^b   Arts, Heleen H ^a,c,d   Chakrabarti, Rana ^c,e   Wang, Jian ^a   Robinson, John F ^a   Lee, Donald ^e   Mirsattari, Seyed M ^b,e   Rupar, C Anthony ^b,c,e   Siu, Victoria M ^b,c,e   Poulter, Michael O ^a,b   Hegele, Robert A ^a,b   Kramer, Jamie M ^b,c,e   Boycott, Kym ^f   Friedman, Jan ^g   Michaud, Jacques ^h   Bernier, Francois ⁱ   Brudno, Michael ^j   Fernandez, Bridget ^k   Knoppers, Bartha ^l   Samuels, Mark ^h   Scherer, Steve ^j   more..

^a ROBARTS RESEARCH INSTITUTE   (Canada)

^b WESTERN UNIVERSITY   (Canada)

^c CHILDREN S HEALTH RESEARCH INSTITUTE   (Canada)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF WESTERN ONTARIO   (Canada)

^f UNIVERSITY OF OTTAWA   (Canada)

^g UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^h UNIVERSITÉ DE MONTRÉAL   (Canada)

ⁱ UNIVERSITY OF CALGARY   (Canada)

^j UNIVERSITY OF TORONTO   (Canada)

^k MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^l MCGILL UNIVERSITY   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; TETRATRICOPEPTIDE REPEAT PROTEIN; TRANSMEMBRANE AND TETRATRICOPEPTIDE REPEAT CONTAINING 3 PROTEIN; UNCLASSIFIED DRUG; VESICULAR INHIBITORY AMINO ACID TRANSPORTER; CARRIER PROTEIN; TMTC3 PROTEIN, HUMAN;

ADULT; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CASE REPORT; CLINICAL ARTICLE; CONTROLLED STUDY; DROSOPHILA MELANOGASTER; FEMALE; GABAERGIC TRANSMISSION; GENE EXPRESSION; GENE SILENCING; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPOTHALAMUS; INTELLECTUAL IMPAIRMENT; MALE; NEUROBIOLOGY; NOCTURNAL SEIZURE; NONHUMAN; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PRESYNAPTIC NERVE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PYRIFORM CORTEX; RAT; SEIZURE SUSCEPTIBILITY; SYNAPTIC INHIBITION; WHOLE EXOME SEQUENCING; YOUNG ADULT; ABNORMALITIES; ANIMAL; BRAIN; BRAIN CORTEX; EPILEPSY; GENE KNOCKDOWN; GENETICS; HETEROZYGOTE; METABOLISM; NERVE CELL; NERVE ENDING; NERVOUS SYSTEM MALFORMATION; PEDIGREE; SEIZURE; SYNAPSE;

ADULT; ANIMALS; BRAIN; CARRIER PROTEINS; CEREBRAL CORTEX; DROSOPHILA MELANOGASTER; EPILEPSY; FEMALE; GENE KNOCKDOWN TECHNIQUES; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; NERVOUS SYSTEM MALFORMATIONS; NEURONS; PEDIGREE; PERIVENTRICULAR NODULAR HETEROTOPIA; PRESYNAPTIC TERMINALS; RATS; SEIZURES; SYNAPSES; WHOLE EXOME SEQUENCING;

EID: 85031321935     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddx316     Document Type: Article

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