De novo mutations in SIK1 cause a spectrum of developmental epilepsies

American Journal of Human Genetics

Volumn 96, Issue 4, 2015, Pages 682-690

  Hansen, Jeanne ^a   Snow, Chelsi ^b   Tuttle, Emily ^a   Ghoneim, Dalia H ^a   Yang, Chun Song ^b   Spencer, Adam ^b   Gunter, Sonya A ^b   Smyser, Christopher D ^c   Gurnett, Christina A ^c   Shinawi, Marwan ^c   Dobyns, William B ^d,e   Wheless, James ^f   Halterman, Marc W ^a   Jansen, Laura A ^b   Paschal, Bryce M ^b,g   Paciorkowski, Alex R ^a  

^a UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^b UNIVERSITY OF VIRGINIA   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e Seattle Children's   (United States)

^f UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^g UNIVERSITY OF VIRGINIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE KINASE; ANTICONVULSIVE AGENT; HISTONE DEACETYLASE 5; SALT INDUCIBLE KINASE 1; UNCLASSIFIED DRUG; HDAC5 PROTEIN, HUMAN; HISTONE DEACETYLASE; PRIMER DNA; PROTEIN SERINE THREONINE KINASE; SIK1 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ANTICONVULSANT THERAPY; ARTICLE; AUTISM; AUTOPHOSPHORYLATION; BENIGN CHILDHOOD EPILEPSY; CELLULAR DISTRIBUTION; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DEVELOPMENTAL EPILEPSY; DRUG TREATMENT FAILURE; ENZYME ACTIVITY; ENZYME DEGRADATION; EPILEPTOGENESIS; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; INFANT; INFANTILE SPASM; INTRACTABLE EPILEPSY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYOCLONUS SEIZURE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; ONSET AGE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STABILITY; RESPIRATORY TRACT DISEASE; SIK1 GENE; SURVIVAL; TONIC SEIZURE; WILD TYPE; AGE; CASE REPORT; ELECTROENCEPHALOGRAPHY; GENETICS; IMMUNOHISTOCHEMISTRY; METABOLISM; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHOSPHORYLATION; POLYMERASE CHAIN REACTION;

AGE FACTORS; AUTISTIC DISORDER; BASE SEQUENCE; CHILD; DNA PRIMERS; ELECTROENCEPHALOGRAPHY; HISTONE DEACETYLASES; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHORYLATION; POLYMERASE CHAIN REACTION; PROTEIN-SERINE-THREONINE KINASES; SPASMS, INFANTILE;

EID: 84926208411     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.02.013     Document Type: Article

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