Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination

Neurology

Volumn 85, Issue 9, 2015, Pages 756-762

  Mefford, Heather C ^a,c   Zemel, Matthew ^a   Geraghty, Eileen ^a   Cook, Joseph ^a   Clayton, Peter T ^d   Paul, Karl ^e   Plecko, Barbara ^e,f   Mills, Philippa B ^d   Nordli, Douglas R ^g,h   Gospe, Sidney M ^b,c  

^a Divisions of Genetic Medicine   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY HOSPITAL GRAZ   (Austria)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^g NORTHWESTERN UNIVERSITY   (United States)

^h CHILDREN'S MEMORIAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDH7A1 PROTEIN; BIOLOGICAL MARKER; GRAMD3 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; ALDEHYDE DEHYDROGENASE; ALDH7A1 PROTEIN, HUMAN;

ALU SEQUENCE; ARTICLE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DNA MICROARRAY; DNA RECOMBINATION; EPILEPSY; EXON; FATHER; GENE DELETION; GENETIC SUSCEPTIBILITY; HUMAN; INFANT; INTRAGENIC DELETION; INTRON; MOTHER; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT EPILEPSY; SEQUENCE ANALYSIS; GENETICS; PROCEDURES;

ALDEHYDE DEHYDROGENASE; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; HUMANS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE DELETION;

EID: 84959055361     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001883     Document Type: Article

References (12)

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