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 SAMD12 gene

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...

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Detalhes bibliográficos
Publicado no:Brain Commun
Main Authors: Mahadevan, Radha, Bhoyar, Rahul C, Viswanathan, Natarajan, Rajagopal, Raskin Erusan, Essaki, Bobby, Suroliya, Varun, Chelladurai, Rachel, Sankaralingam, Saravanan, Shanmugam, Ganesan, Vayanakkan, Sriramakrishnan, Shamim, Uzma, Mathur, Aradhana, Jain, Abhinav, Imran, Mohamed, Faruq, Mohammed, Scaria, Vinod, Sivasubbu, Sridhar, Kalyanaraman, Shantaraman
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7811760/
https://ncbi.nlm.nih.gov/pubmed/33501421
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/braincomms/fcaa214
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