A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)

Brain and Development

Volumn 38, Issue 9, 2016, Pages 857-861

  Güngör, Olcay ^a   Özkaya, Ahmet Kağan ^b   Şahin, Yavuz ^c   Güngör, Gülay ^c   Dilber, Cengiz ^a   Aydın, Kürşad ^d  

^a KAHRAMANMARAS SUTCU IMAM UNIVERSITY   (Turkey)

^b CUKUROVA UNIVERSITY   (Turkey)

^c Necip Fazil City Hospital   (Turkey)

^d GAZI UNIVERSITY   (Turkey)

Author keywords

EARS2; Leukoencephalopathy; Mitochondrial aminoacyl tRNA synthetase

Indexed keywords

LACTIC ACID; GLUTAMATE TRANSFER RNA LIGASE; GLUTAMYL-TRNA SYNTHETASE 2, MITOCHONDRIAL, HUMAN;

ARTICLE; BRAIN STEM INJURY; CASE REPORT; CHILD; DISEASE COURSE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GLUTAMATE TRANSFER RNA LIGASE GENE; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HUMAN; LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE DISEASE; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; SEIZURE; THALAMUS DISEASE; WALKING; BRAIN STEM; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; FOLLOW UP; GENETICS; LEUKOENCEPHALOPATHIES; METABOLISM; MUTATION; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX; THALAMUS;

BRAIN STEM; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; GLUTAMATE-TRNA LIGASE; HUMANS; LACTIC ACID; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MUTATION; SEVERITY OF ILLNESS INDEX; THALAMUS;

EID: 84964596762     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2016.04.002     Document Type: Article

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