Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum

Clinical Genetics

Volumn 93, Issue 2, 2018, Pages 368-373

  Yoshida, M ^a   Nakashima, M ^b   Okanishi, T ^c   Kanai, S ^c   Fujimoto, A ^c   Itomi, K ^d   Morimoto, M ^a   Saitsu, H ^e   Kato, M ^f   Matsumoto, N ^b   Chiyonobu, T ^a  

^a KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

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

^c SEIREI HAMAMATSU GENERAL HOSPITAL   (Japan)

^d AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^e HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

BCL11A; epileptic encephalopathy; fetal hemoglobin; whole exome sequencing

Indexed keywords

CLOBAZAM; CLONAZEPAM; CORTICOTROPIN; HEMOGLOBIN F; HISTIDINE; LEVETIRACETAM; LYSINE; METHIONINE; THREONINE; VALPROIC ACID; BCL11A PROTEIN, HUMAN; CARRIER PROTEIN; NUCLEAR PROTEIN;

ABSENCE; ADOLESCENT; ARTICLE; ATONIC SEIZURE; BCL11A GENE; CASE REPORT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX PARTIAL SEIZURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DRUG RESISTANT EPILEPSY; ELECTROENCEPHALOGRAPHY; FOCAL EPILEPSY; FRAMESHIFT MUTATION; GENE; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HUMAN; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LENNOX GASTAUT SYNDROME; MALE; MISSENSE MUTATION; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; TONIC SEIZURE; WHOLE EXOME SEQUENCING; BRAIN DISEASE; EPILEPSY; FEMALE; GENETICS; NEWBORN; PATHOPHYSIOLOGY;

ADOLESCENT; BRAIN DISEASES; CARRIER PROTEINS; CHILD; EPILEPSY; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; LENNOX GASTAUT SYNDROME; MALE; NUCLEAR PROTEINS; SPASMS, INFANTILE; WHOLE EXOME SEQUENCING;

EID: 85041027358     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.13067     Document Type: Article

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