RARS2 mutations in a sibship with infantile spasms

Epilepsia

Volumn 57, Issue 5, 2016, Pages e97-e102

  Ngoh, Adeline ^a,b   Bras, Jose ^c   Guerreiro, Rita ^c,d   Meyer, Esther ^a   McTague, Amy ^a,b   Dawson, Eleanor ^e   Mankad, Kshitij ^b   Gunny, Roxana ^b   Clayton, Peter ^a,b   Mills, Philippa B ^a   Thornton, Rachel ^b   Lai, Ming ^f   Forsyth, Robert ^e,g   Kurian, Manju A ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e UK   (United Kingdom)

^f ROYAL VICTORIA INFIRMARY   (United Kingdom)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Infantile spasms; Pontocerebellar hypoplasia type 6; RARS2; Whole exome sequencing

Indexed keywords

CLONAZEPAM; LEVETIRACETAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; ARGININE TRANSFER RNA LIGASE; RARS2 PROTEIN, HUMAN;

ARTICLE; BULBAR PARALYSIS; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CHILD; CLONIC SEIZURE; DISEASE ASSOCIATION; DRUG MEGADOSE; DRUG RESISTANT EPILEPSY; GENE; HUMAN; HYPOGLYCEMIA; INFANTILE SPASM; KETOGENIC DIET; MALE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROIMAGING; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PONTOCEREBELLAR HYPOPLASIA TYPE 6; PRESCHOOL CHILD; PRIORITY JOURNAL; RARS2 GENE; SCHOOL CHILD; SCOLIOSIS; SEQUENCE ANALYSIS; SPASTICITY; TONIC CLONIC SEIZURE; VISUAL IMPAIRMENT; WHOLE EXOME SEQUENCING; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; NEWBORN; SIBLING;

ARGININE-TRNA LIGASE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT, NEWBORN; MALE; MUTATION; SIBLINGS; SPASMS, INFANTILE;

EID: 84963826897     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13358     Document Type: Article

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