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Erreurs innées du métabolisme intermédiaire : Comment améliorer le pronostic neurologique ? Quand y penser, quoi faire et comment agir ?
Pr Azzedine MEKKI
Alger, Algérie
Chef de service de Pédiatrie au CHU Hussein-Dey , Alger
Neuropédiatre
Professeur des universités à la faculté de médecine d’Alger
Responsable du groupe Neurologie pédiatrique et maladies du métabolisme à la société Algérienne de pédiatrie
Coordinateur national des maladies rares
Vice-président de la ligue Algérienne pour la prise en charge de l’épilepsie
Investigateur principal de plusieurs essais cliniques
Auteur de nombreux articles et publications -
ICNA Frank Ford Award
Frank R. Ford (1892-1970) Dr. Frank Ford was born and spent nearly his entire life in Baltimore, where he established a strong Paediatric Neurology Service. He graduated from Johns Hopkins University in 1915 and its medical school in 1920. In 1918, he joined the Student Army Training Corps. Ford served an internship at the Henry Phipps Psychiatric Institute of The Johns Hopkins Hospital from 1920 to 1921 before completing a residency in neurology at the Bellevue Hospital in New York in 1922. He returned to Johns Hopkins as a resident in neurology in 1922. He spent a year in psychiatry at the Phipps Psychiatric Clinic under Adolf Meyer but found Meyer's laboratory more objective and satisfying. He left for New York and Bellevue Hospital for a year of neurology training under Foster Kennedy. Here, he would also have encountered Sachs, who was a member of the staff.
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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.