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Mahadevan R, Bhoyar RC, Viswanathan N, et al. Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the . Brain Commun. 2020;3(1):fcaa214doi: 10.1093/braincomms/fcaa214.
Mahadevan, R., Bhoyar, R. C., Viswanathan, N., Rajagopal, R. E., Essaki, B., Suroliya, V., Chelladurai, R., Sankaralingam, S., Shanmugam, G., Vayanakkan, S., Shamim, U., Mathur, A., Jain, A., Imran, M., Faruq, M., Scaria, V., Sivasubbu, S., & Kalyanaraman, S. (2021). Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the . Brain communications, 3(1), fcaa214. https://doi.org/10.1093/braincomms/fcaa214
Mahadevan, Radha, et al. "Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the ." Brain communications vol. 3,1 (2021): fcaa214. doi: https://doi.org/10.1093/braincomms/fcaa214
Mahadevan R, Bhoyar RC, Viswanathan N, Rajagopal RE, Essaki B, Suroliya V, Chelladurai R, Sankaralingam S, Shanmugam G, Vayanakkan S, Shamim U, Mathur A, Jain A, Imran M, Faruq M, Scaria V, Sivasubbu S, Kalyanaraman S. Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the . Brain Commun. 2020 Dec 19;3(1):fcaa214. doi: 10.1093/braincomms/fcaa214. eCollection 2021. PMID: 33501421; PMCID: PMC7811760.
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Brain Commun. 2020 Dec 19;3(1):fcaa214. doi: 10.1093/braincomms/fcaa214. eCollection 2021.

Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the .

Brain communications

Radha Mahadevan, Rahul C Bhoyar, Natarajan Viswanathan, Raskin Erusan Rajagopal, Bobby Essaki, Varun Suroliya, Rachel Chelladurai, Saravanan Sankaralingam, Ganesan Shanmugam, Sriramakrishnan Vayanakkan, Uzma Shamim, Aradhana Mathur, Abhinav Jain, Mohamed Imran, Mohammed Faruq, Vinod Scaria, Sridhar Sivasubbu, Shantaraman Kalyanaraman

Affiliations

  1. Department of Neurology, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
  2. Genomics and Molecular Medicine, CSIR-Institute of Genomics and Integrative Biology (CSIR-IGIB), Delhi 110025, India.
  3. Institute of Neurology, Madras Medical College, Chennai 600003, Tamil Nadu, India.
  4. Multidisciplinary Research Unit, Tirunelveli Medical College, Tirunelveli 627011, Tamil Nadu, India.
  5. Galaxy Hospital, Tirunelveli 627003, Tamil Nadu, India.

PMID: 33501421 PMCID: PMC7811760 DOI: 10.1093/braincomms/fcaa214

Abstract

Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy is a non-progressive disorder characterized by distal tremors. Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy has been reported globally with different genetic predispositions of autosomal dominant inheritance with a high degree of penetrance. In south India, Autosomal Dominant Cortical Tremor, Myoclonus and Epilepsy has been reported in a large cohort of 48 families, in which the genetic defect was not identified. This report pertains to the whole-genome analysis of four individuals followed by repeat-primed PCR for 102 patients from a familial cohort of 325 individuals. All the patients underwent extensive clinical evaluation including neuropsychological examinations. The whole-genome sequencing was done for two affected and two unaffected individuals, belonging to two different families. The whole-genome sequencing analysis revealed the repeat expansion of TTTTA and TTTCA in intron 4 of the

© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain.

Keywords: SAMD12; TTTCA repeat expansion; autosomal dominant cortical tremor; myoclonus and epilepsy (ADCME); repeat-primed PCR

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