De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

American Journal of Human Genetics

Volumn 94, Issue 4, 2014, Pages 634-641

  Cushion, Thomas D ^a   Paciorkowski, Alex R ^b   Pilz, Daniela T ^a,c   Mullins, Jonathan G L ^a   Seltzer, Laurie E ^b   Marion, Robert W ^d   Tuttle, Emily ^b   Ghoneim, Dalia ^b   Christian, Susan L ^e   Chung, Seo Kyung ^a   Rees, Mark I ^a   Dobyns, William B ^e,f  

^a SWANSEA UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^c UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^d CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

^e SEATTLE CHILDREN S HOSPITAL   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TUBULIN; BETA TUBULIN; GUANOSINE TRIPHOSPHATE; HETERODIMER; PROTEIN TUBB2A; UNCLASSIFIED DRUG;

AGYRIA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; COMPUTER MODEL; EXOME; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; INFANTILE SPASM; MACROGYRIA; MALE; MICROGYRIA; MICROTUBULE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; DENTATE GYRUS; EPILEPSY; HEK293 CELLS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE HOMOLOGY, AMINO ACID; TUBULIN;

EID: 84898723196     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.03.009     Document Type: Article

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