Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures

American Journal of Human Genetics

Volumn 94, Issue 1, 2014, Pages 87-94

  Baple, Emma L ^a   Maroofian, Reza ^a   Chioza, Barry A ^a   Izadi, Maryam ^b   Cross, Harold E ^c   Al Turki, Saeed ^d   Barwick, Katy ^a   Skrzypiec, Anna ^a   Pawlak, Robert ^a   Wagner, Karin ^e   Coblentz, Roselyn ^e   Zainy, Tala ^f   Patton, Michael A ^a   Mansour, Sahar ^f   Rich, Phillip ^g   Qualmann, Britta ^b   Hurles, Matt E ^d   Kessels, Michael M ^b   Crosby, Andrew H ^a  

^a UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^b JENA UNIVERSITY HOSPITAL   (Germany)

^c UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e Windows of Hope Genetic Study   (United States)

^f ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^g ST GEORGE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; GREEN FLUORESCENT PROTEIN; KAPTIN PROTEIN; METHIONINE; PROTEIN; SERINE; UNCLASSIFIED DRUG; GABAPENTIN;

ACTIN FILAMENT; ADOLESCENT; ADULT; ARTICLE; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DOWN REGULATION; GENE DUPLICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; GOLGI COMPLEX; HAPLOTYPE; HETEROZYGOSITY; HIPPOCAMPAL NEURONAL CULTURE; HOMOZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; MACROCEPHALY; MICROSATELLITE MARKER; NERVE CELL DIFFERENTIATION; NERVE GROWTH; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE; SYNAPSE; ANIMAL CELL; EXOME; IMMUNOLOCALIZATION; LINKAGE ANALYSIS; NERVE CELL NETWORK; NONHUMAN; RAT;

EID: 84891832808     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.001     Document Type: Article

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