Intronic repeat expansions in epilepsies

In this week's FLICNA - ICNTN Journal Club, Antonella Riva and Pasquale Striano from Genova, Italy will be discussing 

Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL | display-authors=etal (2019) Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nat Commun 10 (1):4920. DOI: 10.1038/s41467-019-12671-y PMID: 31664034.

Moderator: Marios Kaliakatsos, Consultant Paediatric Neurologist, Great Ormond Street Hospital, London.

References:

• Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL | display-authors=etal (2019) Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nat Commun 10 (1):4920. DOI: 10.1038/s41467-019-12671-y PMID: 31664034. [PDF]
• Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A | display-authors=etal (2018) Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. Nat Genet 50 (4):581-590. DOI: 10.1038/s41588-018-0067-2 PMID: 29507423. [PDF]
• Scheffer IE (2018) The Key to FAME: Intronic Repeat Expansions Cause Human Epilepsies. Epilepsy Curr 18 (4):238-239. DOI: 10.5698/1535-7597.18.4.238 PMID: 30254519.
• Hannan AJ (2018) Tandem repeats mediating genetic plasticity in health and disease. Nat Rev Genet 19 (5):286-298. DOI: 10.1038/nrg.2017.115 PMID: 29398703. [PDF]
• Ohnmacht J, May P, Sinkkonen L, Krüger R (2020) Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation. J Neural Transm (Vienna) 127 (5):729-748. DOI: 10.1007/s00702-020-02184-0 PMID: 32248367. [PDF]
• De Fusco M, Vago R, Striano P, Di Bonaventura C, Zara F, Mei D | etal (2014) The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy. Ann Neurol 75 (1):77-87. DOI: 10.1002/ana.24028 PMID: 24114805. [PDF]
• Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR | display-authors=etal (2019) Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS. Am J Hum Genet 105 (1):151-165. DOI: 10.1016/j.ajhg.2019.05.016 PMID: 31230722.
• van den Ende T, Sharifi S, van der Salm SMA, van Rootselaar AF (2018) Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review. Tremor Other Hyperkinet Mov (N Y) 8 ():503. DOI: 10.7916/D85155WJ PMID: 29416935.