A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5

Brain and Development

Volumn 34, Issue 5, 2012, Pages 364-367

  Saitsu, Hirotomo ^a   Osaka, Hitoshi ^b   Nishiyama, Kiyomi ^a   Tsurusaki, Yoshinori ^a   Doi, Hiroshi ^a   Miyake, Noriko ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

CDKL5; Early onset epileptic encephalopathy; Microdeletion; Rett syndrome like features

Indexed keywords

CDKL5 PROTEIN; CLONAZEPAM; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; COPY NUMBER VARIATION; DISEASE ASSOCIATION; ELECTROENCEPHALOGRAM; EXON; FEMALE; GENE DELETION; GRAND MAL SEIZURE; HUMAN; IMAGE ANALYSIS; LENNOX GASTAUT SYNDROME; LIGHT; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; MYOCLONUS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; RETT SYNDROME; SCHOOL CHILD; TONIC CLONIC SEIZURE;

CHILD; ENCEPHALITIS; EPILEPSY; FEMALE; GENETIC TESTING; HUMANS; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEQUENCE DELETION;

EID: 84859908367     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.07.004     Document Type: Article

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