TY - JOUR
T1 - Expanding the electro-clinical phenotype of CARS2associated neuroregression
AU - Kapoor, Dipti
AU - Majethia, Purvi
AU - Anand, Aakanksha
AU - Shukla, Anju
AU - Sharma, Suvasini
N1 - Funding Information:
DK wrote the initial manuscript, AA helped in collecting data, SS modified the manuscript, PM and AS conducted the Genetic test and provided the inputs for modification of the manuscript, All the authors read and approved the final manuscript. We also want to thank our EEG lab technicians Mr Manas, Mr Kishan and Mr Kishan for their contribution.
Publisher Copyright:
© 2021 The Author(s)
PY - 2021/1
Y1 - 2021/1
N2 - Biallelic variants in CARS2 (Cysteinyl-tRNA synthetase 2; MIM*612800), are known to cause combined oxidative phosphorylation deficiency 27 (MIM#616672), characterized by severe myoclonic epilepsy, neuroregression and complex movement disorders. To date, six individuals from five families have been reported with variants in CARS2. Herein, we present an 11-year-old boy who presented with neuroregression, dysfluent speech, aggressive behavior and tremors for 2 years. An electroencephalogram (EEG) revealed a highly abnormal background with generalized spike-and-wave discharges suggestive of Electrical Status Epilepticus during Sleep (ESES). A known homozygous c.655G > A(p.Ala219Thr) pathogenic variant in exon 6 of the CARS2(NM_024537.4) was identified on exome sequencing. Our report expands the electro-clinical spectrum of the phenotype with presence of severe behavioral abnormalities, continuous tremors and ESES pattern on EEG, not previously reported.
AB - Biallelic variants in CARS2 (Cysteinyl-tRNA synthetase 2; MIM*612800), are known to cause combined oxidative phosphorylation deficiency 27 (MIM#616672), characterized by severe myoclonic epilepsy, neuroregression and complex movement disorders. To date, six individuals from five families have been reported with variants in CARS2. Herein, we present an 11-year-old boy who presented with neuroregression, dysfluent speech, aggressive behavior and tremors for 2 years. An electroencephalogram (EEG) revealed a highly abnormal background with generalized spike-and-wave discharges suggestive of Electrical Status Epilepticus during Sleep (ESES). A known homozygous c.655G > A(p.Ala219Thr) pathogenic variant in exon 6 of the CARS2(NM_024537.4) was identified on exome sequencing. Our report expands the electro-clinical spectrum of the phenotype with presence of severe behavioral abnormalities, continuous tremors and ESES pattern on EEG, not previously reported.
UR - http://www.scopus.com/inward/record.url?scp=85122688353&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85122688353&partnerID=8YFLogxK
U2 - 10.1016/j.ebr.2021.100485
DO - 10.1016/j.ebr.2021.100485
M3 - Article
AN - SCOPUS:85122688353
SN - 2213-3232
VL - 16
JO - Epilepsy and Behavior Reports
JF - Epilepsy and Behavior Reports
M1 - 100485
ER -