Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 153, Issue 5, 2010, Pages 1042-1051

  Nowakowska, Beata A ^a   Obersztyn, Ewa ^a   Szymańska, Krystyna ^b,c   Bekiesińska Figatowska, Monika ^a   Xia, Zhilian ^d   Ricks, Christian B ^d   Bocian, Ewa ^a   Stockton, David W ^e   Szczałuba, Krzysztof ^a   Nawara, Magdalena ^a   Patel, Ankita ^d   Scott, Daryl A ^d   Cheung, Sau Wai ^d   Bohan, Timothy P ^f   Stankiewicz, Paweł ^a,d  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^c MEDICAL UNIVERSITY OF WARSAW   (Poland)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f MEMORIAL HERMANN HOSPITAL   (United States)

Author keywords

Array CGH; Epilepsy; Haploinsufficiency; MEF2C; Mental retardation

Indexed keywords

CLONAZEPAM; ETIRACETAM; MEMBRANE PROTEIN; MYOCYTE ENHANCER FACTOR 2; MYOCYTE ENHANCER FACTOR 2C; TRANSMEMBRANE PROTEIN 161B; UNCLASSIFIED DRUG; VALPROATE SEMISODIUM; VIGABATRIN; MADS DOMAIN PROTEIN; MEF2C PROTEIN, HUMAN; MYOGENIC FACTOR;

ARTICLE; AUTISM; BRUXISM; CASE REPORT; CHILD; CHROMOSOME 5Q; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CORPUS CALLOSUM; DISEASE SEVERITY; DNA MICROARRAY; EEG ABNORMALITY; EXON; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; GENE DELETION; GENERALIZED EPILEPSY; HUMAN; INFANCY; INFANTILE SPASM; INTRACTABLE EPILEPSY; KETOGENIC DIET; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE; SLEEP DISORDER; SPEECH DISORDER; TONIC CLONIC SEIZURE; TREMOR; WHITE MATTER; COMPLICATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENETICS; INFANT; INTELLECTUAL IMPAIRMENT; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREGNANCY;

BASE SEQUENCE; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MADS DOMAIN PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MEF2 TRANSCRIPTION FACTORS; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MYOGENIC REGULATORY FACTORS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMERASE CHAIN REACTION; PREGNANCY; SEIZURES;

EID: 77954371512     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31071     Document Type: Article

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