Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1232-1239

  Dias, Cristina ^a,b   McDonald, Allison ^a,c   Sincan, Murat ^d   Rupps, Rosemarie ^a,b,e   Markello, Thomas ^d   Salvarinova, Ramona ^a   Santos, Rui F ^a   Menghrajani, Kamal ^d   Ahaghotu, Chidi ^d   Sutherland, Darren P ^a,c   Fortuno, Edgardo S ^a,c   Kollmann, Tobias R ^a,c   Demos, Michelle ^a   Friedman, Jan M ^a,b   Speert, David P ^a,c   Gahl, William A ^d   Boerkoel, Cornelius F ^a,b,d  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BC CHILDREN S HOSPITAL   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^e Rare Disease Foundation   (Canada)

Author keywords

cerebellar white matter; exome sequencing; familial hemophagocytic lymphohistiocytosis; interleukin 1 beta; neurodegeneration

Indexed keywords

INTERLEUKIN 1BETA; PERFORIN; PERFORIN 1; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; CASE REPORT; CHICKENPOX; CHILD; CHILD DEATH; CLINICAL FEATURE; CYTOPENIA; DIASTOLIC DYSFUNCTION; DYSARTHRIA; EXOME; FEMALE; GASTROENTERITIS; GENE MUTATION; HEMOPHAGOCYTIC SYNDROME; HOMOZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFECTION; LYMPHADENOPATHY; NERVE DEGENERATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELAPSE; REMISSION; SIBLING; SPLENOMEGALY; TACHYCARDIA; TACHYPNEA; VOMITING; WHITE MATTER;

ATAXIA; CHILD; CHILD, PRESCHOOL; EXOME; FATAL OUTCOME; FEMALE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFLAMMASOMES; INTERLEUKIN-1BETA; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; RECURRENCE; SEQUENCE ANALYSIS, DNA;

EID: 84885944027     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.20     Document Type: Article

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