A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy

Brain and Development

Volumn 37, Issue 6, 2015, Pages 638-642

  Takano, Kyoko ^a,b   Tsuyusaki, Yu ^a   Sato, Mutsumi ^a   Takagi, Mariko ^a   Anzai, Rie ^a   Okuda, Mitsuko ^a   Iai, Mizue ^a   Yamashita, Sumimasa ^a   Okabe, Tetsuhiko ^a   Aida, Noriko ^a   Tsurusaki, Yoshinori ^c   Saitsu, Hirotomo ^c   Matsumoto, Naomichi ^c   Osaka, Hitoshi ^a,d  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

^d JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Cree leukoencephalopathy; EIF2B5; EIF2B ; Eukaryotic translation initiation factor 2B; Vanishing white matter disease (VWM)

Indexed keywords

ANTICONVULSIVE AGENT; CEREBROSIDE SULFATASE; GALACTOSYLCERAMIDASE; GLYCINE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; INITIATION FACTOR 2B5; LACTIC ACID; MIDAZOLAM; PHENOBARBITAL; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

AMINO ACID ANALYSIS; ARTICLE; ASPIRATION PNEUMONIA; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLONUS; COMPLEX PARTIAL SEIZURE; CONTROLLED STUDY; CREE LEUKOENCEPHALOPATHY; DETERIORATION; DYSPHAGIA; ELECTROENCEPHALOGRAPH; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; EXOME; FEMALE; FOLLOW UP; GASTROESOPHAGEAL REFLUX; GENE MUTATION; GLOBOID CELL LEUKODYSTROPHY; GLOBUS PALLIDUS; HETEROZYGOTE; HOME OXYGEN THERAPY; HUMAN; IMMOBILITY; INTRACTABLE EPILEPSY; JAPANESE (PEOPLE); LETHARGY; LEUKOENCEPHALOPATHY; METACHROMATIC LEUKODYSTROPHY; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POSITIVE END EXPIRATORY PRESSURE; PRESCHOOL CHILD; SEIZURE; SPASTICITY; TENDON REFLEX; VACCINATION; VANISHING WHITE MATTER DISEASE; VOMITING; WHITE MATTER LESION; BRAIN; GENETICS; JAPAN; PATHOLOGY; WHITE MATTER;

BRAIN; CHILD, PRESCHOOL; EUKARYOTIC INITIATION FACTOR-2B; FEMALE; HUMANS; JAPAN; LEUKOENCEPHALOPATHIES; WHITE MATTER;

EID: 84928272271     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.10.002     Document Type: Article

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