FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy

Epilepsy Research

Volumn 129, Issue , 2017, Pages 118-124

  Cho, Jae So ^a   Kim, Seung Hyo ^b   Kim, Ha Young ^c   Chung, Taesu ^d   Kim, Dongsup ^d   Jang, Sesong ^e   Lee, Seung Bok ^a   Yoo, Seung Keun ^e   Shin, Jongyeon ^e   Kim, Jong il ^e   Kim, Hunmin ^f   Hwang, Hee ^f   Chae, Jong Hee ^a   Choi, Jieun ^g   Kim, Ki Joong ^a   Lim, Byung Chan ^a  

^a Seoul National University Children's Hospital   (South Korea)

^b Jeju National University College of Medicine   (South Korea)

^c Columbia University ^*  (United States)

^d Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^e Seoul National University   (South Korea)

^f Seoul National University Bundang Hospital   (South Korea)

^g Seoul National University Boramae Hospital   (South Korea)

Author keywords

Early onset epileptic encephalopathy; FARS2; Mitochondrial tRNA synthetase

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CLOBAZAM; LACTIC ACID; LEVETIRACETAM; MIDAZOLAM; PHENOBARBITAL; PHENYTOIN; TOPIRAMATE; VALPROIC ACID; FARS2 PROTEIN, HUMAN; MITOCHONDRIAL PROTEIN; PHENYLALANINE TRANSFER RNA LIGASE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BODY WEIGHT; BRAIN ATROPHY; CASE REPORT; CHILD; DEATH; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC DISCHARGE; FARS2 GENE; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HUMAN; INFANT; INTRACTABLE EPILEPSY; KOREAN (PEOPLE); LACTATE BLOOD LEVEL; LENNOX GASTAUT SYNDROME; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; TONIC CLONIC SEIZURE; WHOLE EXOME SEQUENCING; BRAIN; DIAGNOSTIC IMAGING; GENETICS; METABOLISM; PHENOTYPE;

BRAIN; EPILEPSY; FEMALE; HUMANS; INFANT; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR DYNAMICS SIMULATION; MUTATION, MISSENSE; PHENOTYPE; PHENYLALANINE-TRNA LIGASE;

EID: 85007486169     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2016.11.022     Document Type: Article

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