A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Journal of Neurology

Volumn 259, Issue 12, 2012, Pages 2590-2598

  Blumkin, Lubov ^a   Kivity, Sara ^a   Lev, Dorit ^a,b   Cohen, Sarit ^a,b   Shomrat, Ruth ^a   Lerman Sagie, Tally ^a   Leshinsky Silver, Esther ^a,c  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c Pronto Diagnostics   (Israel)

Author keywords

Corticosteroid treatment; Exomics; KCTD7; Opsoclonus myoclonus Ataxia

Indexed keywords

POTASSIUM CHANNEL TETRAMERIZATION DOMAIN CONTAINING 7 PROTEIN; PROTEIN; STEROID; UNCLASSIFIED DRUG;

AMNION CELL; ARTICLE; CASE REPORT; CHILD; ELECTROENCEPHALOGRAM; EPILEPSY; EXON; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; OPSOCLONUS MYOCLONUS SYNDROME; PHENOTYPE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENE DELETION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPSOCLONUS-MYOCLONUS SYNDROME; PEDIGREE; POTASSIUM CHANNELS;

EID: 84872119208     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6545-z     Document Type: Article

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