Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations

Brain Research

Volumn 1575, Issue , 2014, Pages 66-71

  Raphael, Alya R ^a   Couthouis, Julien ^a   Sakamuri, Sarada ^a   Siskind, Carly ^a,b   Vogel, Hannes ^a   Day, John W ^a   Gitler, Aaron D ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Alpha dystroglycanopathies; Epilepsy; Exome sequencing; Glycosylation; GMPPB; Muscular dystrophy

Indexed keywords

CD24 ANTIGEN; CREATINE KINASE; GUANOSINE DIPHOSPHATE MANNOSE; GUANOSINE DIPHOSPHATE MANNOSE PYROPHOSPHORYLASE B; LAMIN B; LAMIN B1; MUCIN; MUCIN 12; MUCIN 17; UNCLASSIFIED DRUG; MANNOSE 1-PHOSPHATE GUANYLYLTRANSFERASE; NUCLEOTIDYLTRANSFERASE;

ABSENCE; APRAXIA OF SPEECH; ARTICLE; ASHKENAZI JEW; BABINSKI REFLEX; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CLONUS; CREATINE KINASE BLOOD LEVEL; DEVELOPMENTAL DISORDER; DROP ATTACK; ELECTROENCEPHALOGRAM; EXOME; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; GENE MUTATION; GENE SEQUENCE; GLYCOSYLATION; HETEROZYGOSITY; HUMAN; MICROCEPHALY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NERVE CELL MEMBRANE; PLAGIOCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STOMACH TUBE; STRABISMUS; TONIC CLONIC SEIZURE; BRAIN; GENERALIZED EPILEPSY; GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; WALKER WARBURG SYNDROME;

BRAIN; CHILD; CHILD, PRESCHOOL; EPILEPSY, GENERALIZED; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; NUCLEOTIDYLTRANSFERASES; PEDIGREE; WALKER-WARBURG SYNDROME;

EID: 84925883215     PISSN: 00068993     EISSN: 18726240     Source Type: Journal    
DOI: 10.1016/j.brainres.2014.04.028     Document Type: Article

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