Prof. Pratibha Singhi on COVID-19 and CNS involvement in children for the FLICNA Live Talk Series

Dr. Elaine Wirrell is the director of pediatric epilepsy and professor of neurology at the Mayo Clinic in Rochester, Minnesota. In this lecture Dr Wirrell talks on epilepy surgery for the FLICNA (Future Leaders of ICNA) Live Talk Series.

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.

Phillip L Pearl, President of the Child Neurology Society (USA) talks on Creativity & the Brain at the FLICNA (Future Leaders of ICNA) Live Talks