Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

(2019) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Profiling the genome-wide landscape of tandem repeat expansions

(2019) Nima Mousavi et al.   NUCLEIC ACIDS RESEARCH

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1

(2018) Zhidong Cen et al.   BRAIN

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

(2018) Sheng Zeng et al.   JOURNAL OF MEDICAL GENETICS

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data

(2018) Rick M. Tankard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TTTCA repeat expansion causes familial cortical myoclonic tremor with epilepsy

(2018) X. X. Lei et al.   EUROPEAN JOURNAL OF NEUROLOGY

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) in a unique south Indian community

(2016) Radha Mahadevan et al.   EPILEPSIA

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2

(2016) Lyndal Henden et al.   HUMAN GENETICS

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India

(2014) Kunal Nath et al.   Annals of Indian Academy of Neurology

Dating Rare Mutations from Small Samples with Dense Marker Data

(2014) Luke C. Gandolfo et al.   GENETICS

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

(2012) Patra Yeetong et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p

(2010) C. Depienne et al.   NEUROLOGY