A unique phenotype of 2q24.3-2q32.1 duplication: Early infantile epileptic encephalopathy without mesomelic dysplasia

Journal of Child Neurology

Volumn 29, Issue 2, 2014, Pages 260-264

  Lim, Byung Chan ^a   Min, Byung Joo ^b   Park, Woong Yang ^b   Oh, Sun Kyung ^c   Woo, Mi Jung ^c   Choi, Jin Sun ^c   Kim, Ki Joong ^a   Hwang, Yong Seung ^a   Chae, Jong Hee ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Seoul National University College of Medicine   (South Korea)

^c Seoul National University   (South Korea)

Author keywords

2q duplication; comparative genomic hybridization array; epilepsy; HOXD; hypoplastic left heart syndrome; mesomelic dysplasia; sodium channel

Indexed keywords

VOLTAGE GATED SODIUM CHANNEL;

ARTICLE; BLALOCK TAUSSIG SHUNT; CASE REPORT; CESAREAN SECTION; CHROMOSOME 2Q; CHROMOSOME 6Q; CHROMOSOME DUPLICATION; CHROMOSOME INSERTION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; ELECTIVE SURGERY; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC INFANTILE ENCEPHALOPATHY; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; LUNG ARTERY BANDING; MALE; MUSCLE TONE; NEWBORN; NEWBORN INTENSIVE CARE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESUSCITATION; SEIZURE;

2Q DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION ARRAY; EPILEPSY; HOXD; HYPOPLASTIC LEFT HEART SYNDROME; MESOMELIC DYSPLASIA; SODIUM CHANNEL;

AICARDI SYNDROME; BRAIN; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; FATHERS; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PHENOTYPE; SPASMS, INFANTILE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 84892709488     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813478659     Document Type: Article

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