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Volumn 37, Issue 9, 2015, Pages 911-915
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Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing
d
KOBE UNIVERSITY
(Japan)
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Author keywords
CDKL5; Double mutations; Early infantile epileptic encephalopathy (EIEE); Next generation sequencing; Somatic mosaicism
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Indexed keywords
CARBAMAZEPINE;
CLOBAZAM;
CYCLIN DEPENDENT KINASE 5;
CYCLIN DEPENDENT KINASE LIKE 5;
ETIRACETAM;
LAMOTRIGINE;
PHENOBARBITAL;
PHENYTOIN;
POTASSIUM CHANNEL KCNQ2;
UNCLASSIFIED DRUG;
VALPROIC ACID;
ZONISAMIDE;
CDKL5 PROTEIN, HUMAN;
PROTEIN SERINE THREONINE KINASE;
ARTICLE;
CASE REPORT;
CHILD;
COMPUTER ASSISTED TOMOGRAPHY;
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY;
ELECTROENCEPHALOGRAM;
GENETIC ANALYSIS;
GENETIC VARIABILITY;
HETEROZYGOSITY;
HUMAN;
INFANTILE SPASM;
INHERITANCE;
INTRACTABLE EPILEPSY;
KARYOTYPE 46,XY;
MALE;
MOSAICISM;
NEXT GENERATION SEQUENCING;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PRESCHOOL CHILD;
RETT SYNDROME;
SINGLE NUCLEOTIDE POLYMORPHISM;
SOMATIC MOSAICISM;
SOMATIC MUTATION;
AICARDI SYNDROME;
BRAIN;
DNA SEQUENCE;
GENETICS;
MUTATION;
PATHOLOGY;
PATHOPHYSIOLOGY;
AICARDI SYNDROME;
BRAIN;
CHILD, PRESCHOOL;
HUMANS;
MALE;
MUTATION;
POLYMORPHISM, SINGLE NUCLEOTIDE;
PROTEIN-SERINE-THREONINE KINASES;
SEQUENCE ANALYSIS, DNA;
SPASMS, INFANTILE;
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EID: 84940598295
PISSN: 03877604
EISSN: 18727131
Source Type: Journal
DOI: 10.1016/j.braindev.2015.03.002 Document Type: Article |
Times cited : (18)
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References (10)
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