SCOPUS 정보 검색 플랫폼

Volumn 51, Issue 1, 2014, Pages 170-175

Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations

(6) Matsumoto, Hiroshi a Zaha, Kiyotaka a Nakamura, Yasuko a Hayashi, Shin b Inazawa, Johji b Nonoyama, Shigeaki a

a NATIONAL DEFENSE MEDICAL COLLEGE (Japan)

b TOKYO MEDICAL AND DENTAL UNIVERSITY (Japan)

Author keywords

9q33q34 microdeletion; dystonia; early infantile epileptic encephalopathy; nephroureteral malformations; nystagmus; STXBP1

Indexed keywords

ANTICONVULSIVE AGENT; BINDING PROTEIN; CLOBAZAM; CORTICOTROPIN; ENDOGLIN; IMMUNOGLOBULIN; NITRAZEPAM; PYRIDOXINE; SPECTRIN; SPECTRIN ALPHA NON ERYTHROCYTIC 1; SYNTAXIN BINDING PROTEIN 1; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; ZONISAMIDE;

ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 9Q; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DRUG EFFICACY; DYSTONIA; EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY; EEG ABNORMALITY; ELECTROENCEPHALOGRAM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC ASSOCIATION; GROWTH RETARDATION; HUMAN; IMMUNOTHERAPY; INFANTILE SPASM; IRRITABILITY; KETOGENIC DIET; KIDNEY DYSPLASIA; LENNOX GASTAUT SYNDROME; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; OHTAHARA SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; TREATMENT OUTCOME; URETEROCELE; BRAIN; CHROMOSOME 9; COMPLICATION; CRANIOFACIAL ABNORMALITIES; ELECTROENCEPHALOGRAPHY; HEART DEFECTS, CONGENITAL; INFANT; INTELLECTUAL DISABILITY; NEPHROTIC SYNDROME; OCULAR MOTILITY DISORDERS; PATHOLOGY; PATHOPHYSIOLOGY; SPASMS, INFANTILE;

BRAIN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; CRANIOFACIAL ABNORMALITIES; DYSTONIA; ELECTROENCEPHALOGRAPHY; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; NEPHROTIC SYNDROME; OCULAR MOTILITY DISORDERS; SPASMS, INFANTILE;

EID: 84902475762 PISSN: 08878994 EISSN: 18735150 Source Type: Journal
DOI: 10.1016/j.pediatrneurol.2014.03.013 Document Type: Article

Times cited : (12)

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