West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation

Journal of Medical Genetics

Volumn 50, Issue 11, 2013, Pages 772-775

  Banne, Ehud ^a   Atawneh, Osama ^b   Henneke, Marco ^c   Brockmann, Knut ^c   Gärtner, Jutta ^c   Elpeleg, Orly ^a   Edvardson, Simon ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Department of Pediatrics   (Palestine)

^c UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADP RIBOSYLATION FACTOR GUANINE NUCLEOTIDE EXCHANGE FACTOR 2; GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ARAB; ARTICLE; CLINICAL ARTICLE; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DNA SEQUENCE; ELECTROENCEPHALOGRAM; EXOME; FEMALE; GENE MUTATION; GRAY MATTER; HUMAN; INFANT; INFANTILE SPASM; LINKAGE ANALYSIS; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PRIORITY JOURNAL; SIBLING; WEST SYNDROME;

EPILEPSY AND SEIZURES; GENETICS; NEUROSCIENCES;

BASE SEQUENCE; BRAIN; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FEMALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INFANT; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; PEDIGREE; SPASMS, INFANTILE;

EID: 84890216020     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101752     Document Type: Article

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