Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

Brain and Development

Volumn 38, Issue 5, 2016, Pages 520-524

  Inui, Takehiko ^a   Kobayashi, Satoru ^b   Ashikari, Yuka ^b   Sato, Ryo ^c   Endo, Wakaba ^a   Uematsu, Mitsugu ^c   Oba, Hiroshi ^d   Saitsu, Hirotomo ^e   Matsumoto, Naomichi ^e   Kure, Shigeo ^c   Haginoya, Kazuhiro ^a  

^a Takuto Rehabilitation Center for Children   (Japan)

^b Nagoya City University West Medical Center   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d TEIKYO UNIVERSITY HOSPITAL   (Japan)

^e YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

EEF1A2; Epilepsy; Genetics; High voltage delta activity; Intellectual disability; Myoclonic seizure; Pediatrics

Indexed keywords

ACETAZOLAMIDE; CLOBAZAM; CLONAZEPAM; ELONGATION FACTOR 1ALPHA; ETHOSUXIMIDE; LAMOTRIGINE; LEVETIRACETAM; NITRAZEPAM; PYRIDOXINE; STEROID; TOPIRAMATE; VALPROIC ACID; EEF1A2 PROTEIN, HUMAN; ELONGATION FACTOR 1;

ABSENCE; ACTION POTENTIAL AMPLITUDE; ANTICONVULSANT THERAPY; ARTICLE; ATONIC SEIZURE; BRAIN ASYMMETRY; CASE REPORT; CHILD; CONVERGENT STRABISMUS; DELTA RHYTHM; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DRUG TREATMENT FAILURE; ELECTRIC POTENTIAL; ELECTROENCEPHALOGRAPHY; ELONGATION FACTOR 1ALPHA 2 GENE; EPILEPTIC DISCHARGE; FACIES; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INFANCY; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MUTATIONAL ANALYSIS; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARIETAL LOBE; PRESCHOOL CHILD; SPIKE WAVE; SYNDACTYLY; WAKEFULNESS; WHOLE EXOME SEQUENCING; COMPLICATION; EPILEPSY; GENETICS; METABOLISM; MISSENSE MUTATION; MYOCLONUS EPILEPSY; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOLOGY; PROCEDURES; SEIZURE;

CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EPILEPSY; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION, MISSENSE; PARIETAL LOBE; PEPTIDE ELONGATION FACTOR 1; PHENOTYPE; SEIZURES;

EID: 84960854384     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2015.11.003     Document Type: Article

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