CDKL5 alterations lead to early epileptic encephalopathy in both genders

Epilepsia

Volumn 52, Issue 10, 2011, Pages 1835-1842

  Liang, Jao Shwann ^a,b   Shimojima, Keiko ^a   Takayama, Rumiko ^c   Natsume, Jun ^d   Shichiji, Minobu ^a   Hirasawa, Kyoko ^a   Imai, Kaoru ^a   Okanishi, Tohru ^e   Mizuno, Seiji ^f   Okumura, Akihisa ^g   Sugawara, Midori ^a   Ito, Tomoshiro ^c   Ikeda, Hiroko ^c   Takahashi, Yukitoshi ^c   Oguni, Hirokazu ^a   Imai, Katsumi ^c   Osawa, Makiko ^a   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b FAR EASTERN MEMORIAL HOSPITAL   (Taiwan)

^c SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

^d NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e SEIREI HAMAMATSU GENERAL HOSPITAL   (Japan)

^f Aichi Prefectural Colony Central Hospital   (Japan)

^g JUNTENDO UNIVERSITY   (Japan)

Author keywords

CDKL5; Epileptic encephalopathy; Gender; Genomic copy number aberration; Mutation

Indexed keywords

METHYL CPG BINDING PROTEIN;

ARTICLE; CHILD; CLINICAL FEATURE; CYCLIN DEPENDENT KINASE LIKE 5 GENE; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME;

BRAIN; CHILD, PRESCHOOL; CODON, NONSENSE; DNA COPY NUMBER VARIATIONS; ELECTROENCEPHALOGRAPHY; EPILEPSY; FEMALE; FRONTAL LOBE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MUTATION, MISSENSE; PROTEIN-SERINE-THREONINE KINASES; SEX FACTORS;

EID: 80053576988     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2011.03174.x     Document Type: Article

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