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Volumn 33, Issue 2, 2011, Pages 166-169
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Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
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Author keywords
Abnormal myelination; BRAF; Cardio facio cutaneous syndrome; Infantile spasms
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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;
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EID: 78751608749
PISSN: 03877604
EISSN: None
Source Type: Journal
DOI: 10.1016/j.braindev.2010.03.008 Document Type: Article |
Times cited : (18)
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References (11)
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