Expanding the electro-clinical phenotype of CARS2associated neuroregression

Dipti Kapoor, Purvi Majethia, Aakanksha Anand, Anju Shukla, Suvasini Sharma

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Article number100485
JournalEpilepsy and Behavior Reports
Publication statusPublished - 01-2021

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology
  • Behavioral Neuroscience


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