Intronic (TTTGA) n insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy

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

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease

(2018) Mark T. W. Ebbert et al.   Molecular Neurodegeneration

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases

(2018) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

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

(2016) Lyndal Henden et al.   HUMAN GENETICS

Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy

(2016) Zhidong Cen et al.   MOVEMENT DISORDERS

Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances

(2016) Zhi-dong Cen et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family

(2015) Zhi-dong Cen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC 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

Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree

(2011) Satsuki Mori et al.   JOURNAL OF HUMAN GENETICS

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

(2010) C. Depienne et al.   NEUROLOGY