RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

European Journal of Paediatric Neurology

Volumn 20, Issue 3, 2016, Pages 412-417

  Nishri, Daniella ^a,b   Goldberg Stern, Hadassa ^c,g   Noyman, Iris ^d   Blumkin, Lubov ^a,g   Kivity, Sara ^a,c   Saitsu, Hirotomo ^e   Nakashima, Mitsuko ^e   Matsumoto, Naomichi ^e   Leshinsky Silver, Esther ^a,f,g   Lerman Sagie, Tally ^a,g   Lev, Dorit ^a,f,g  

^a GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

^b MACCABI HEALTHCARE SERVICES   (Israel)

^c Pediatric Hematology Oncology   (Israel)

^d BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^e YOKOHAMA CITY UNIVERSITY   (Japan)

^f WOLFSON MEDICAL CENTER   (Israel)

^g TEL AVIV UNIVERSITY   (Israel)

Author keywords

Epileptic encephalopathy; Mitochondrial; Pontocerebellar hypoplasia; RARS2

Indexed keywords

ARGININE TRANSFER RNA LIGASE; BIOGENIC AMINE; FOLATE RECEPTOR; FOLINIC ACID; METHYLENETETRAHYDROFOLIC ACID; PHENOBARBITAL; RARS2 PROTEIN, HUMAN;

ANTIBODY TITER; ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CEREBROSPINAL FLUID ANALYSIS; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; ENZYME ACTIVITY; EPILEPTIC DISCHARGE; EXOME; FEMALE; GENE SEQUENCE; GRAY MATTER; HUMAN; HUMAN TISSUE; INFANT; INTRACTABLE EPILEPSY; LIVER BIOPSY; MALE; MICROCEPHALY; MUSCLE BIOPSY; MUTATOR GENE; MYOCLONUS SEIZURE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERSISTENT VEGETATIVE STATE; PONTO CEREBELLAR HYPOPLASIA; PRIORITY JOURNAL; RARS2 GENE; RESPIRATORY CHAIN; SIBLING; TENDON REFLEX; TONIC SEIZURE; WHITE MATTER; EPILEPSY; FATALITY; GENETICS; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

AGE OF ONSET; ARGININE-TRNA LIGASE; CHILD, PRESCHOOL; EPILEPSY; FATAL OUTCOME; FEMALE; HUMANS; MALE; SIBLINGS;

EID: 84959911776     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2016.02.012     Document Type: Article

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