Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination

Brain and Development

Volumn 33, Issue 2, 2011, Pages 166-169

  Aizaki, Koichi ^a   Sugai, Kenji ^a   Saito, Yoshiaki ^a   Nakagawa, Eiji ^a   Sasaki, Masayuki ^a   Aoki, Yoko ^b   Matsubara, Yoichi ^b  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Abnormal myelination; BRAF; Cardio facio cutaneous syndrome; Infantile spasms

Indexed keywords

B RAF KINASE; CLOBAZAM; CLORAZEPATE DIPOTASSIUM; CORTICOTROPIN; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; PHENOBARBITAL; POTASSIUM BROMIDE; PYRIDOXINE; TOPIRAMATE; VALPROIC ACID; ZONISAMIDE;

ARTICLE; ARTIFICIAL VENTILATION; BRAIN ATROPHY; BRAIN REGION; CARDIO FACIO CUTANEOUS SYNDROME; CASE REPORT; CHROMOSOME G BAND; CORPUS CALLOSUM; DEMYELINATION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC FOCUS; FACE MALFORMATION; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HEART ATRIUM SEPTUM DEFECT; HORMONAL THERAPY; HUMAN; HYDRAMNIOS; HYPERTROPHIC CARDIOMYOPATHY; HYPOPLASIA; HYPSARRHYTHMIA; IMMUNOGLOBULIN DEFICIENCY; INFANT; INFANTILE SPASM; KARYOTYPE 46,XX; KETOGENIC DIET; LARYNGOMALACIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN SUPPLY; PULMONARY VALVE STENOSIS; RADIOCARDIOGRAPHY; SCREENING TEST; SEIZURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY; STRIDOR;

BRAIN; DEVELOPMENTAL DISABILITIES; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF; SEIZURES; SPASMS, INFANTILE; TOMOGRAPHY, EMISSION-COMPUTED, SINGLE-PHOTON;

EID: 78751608749     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.03.008     Document Type: Article

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