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Rare genetic epilepsy

MedGen UID:
1826090
•Concept ID:
C5680564
•
Disease or Syndrome

Professional guidelines

PubMed

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
International consensus on diagnosis and management of Dravet syndrome.
Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J
Epilepsia 2022 Jul;63(7):1761-1777. Epub 2022 May 12 doi: 10.1111/epi.17274. PMID: 35490361Free PMC Article
Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment.
Bassetti CLA, Adamantidis A, Burdakov D, Han F, Gay S, Kallweit U, Khatami R, Koning F, Kornum BR, Lammers GJ, Liblau RS, Luppi PH, Mayer G, Pollmächer T, Sakurai T, Sallusto F, Scammell TE, Tafti M, Dauvilliers Y
Nat Rev Neurol 2019 Sep;15(9):519-539. Epub 2019 Jul 19 doi: 10.1038/s41582-019-0226-9. PMID: 31324898

Recent clinical studies

Etiology

Perampanel as precision therapy in rare genetic epilepsies.
Nissenkorn A, Kluger G, Schubert-Bast S, Bayat A, Bobylova M, Bonanni P, Ceulemans B, Coppola A, Di Bonaventura C, Feucht M, Fuchs A, Gröppel G, Heimer G, Herdt B, Kulikova S, Mukhin K, Nicassio S, Orsini A, Panagiotou M, Pringsheim M, Puest B, Pylaeva O, Ramantani G, Tsekoura M, Ricciardelli P, Lerman Sagie T, Stark B, Striano P, van Baalen A, De Wachter M, Cerulli Irelli E, Cuccurullo C, von Stülpnagel C, Russo A
Epilepsia 2023 Apr;64(4):866-874. Epub 2023 Feb 20 doi: 10.1111/epi.17530. PMID: 36734057
Use of social media to assess the effectiveness of vagal nerve stimulation in Dravet syndrome: A caregiver's perspective.
Ali R, Elsayed M, Kaur M, Air E, Mahmood N, Constantinou J, Schwalb J
J Neurol Sci 2017 Apr 15;375:146-149. Epub 2017 Jan 21 doi: 10.1016/j.jns.2017.01.057. PMID: 28320117
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.
Verbeek NE, van der Maas NA, Jansen FE, van Kempen MJ, Lindhout D, Brilstra EH
PLoS One 2013;8(6):e65758. Epub 2013 Jun 6 doi: 10.1371/journal.pone.0065758. PMID: 23762420Free PMC Article

Diagnosis

Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.
Verbeek NE, van der Maas NA, Jansen FE, van Kempen MJ, Lindhout D, Brilstra EH
PLoS One 2013;8(6):e65758. Epub 2013 Jun 6 doi: 10.1371/journal.pone.0065758. PMID: 23762420Free PMC Article

Therapy

Perampanel as precision therapy in rare genetic epilepsies.
Nissenkorn A, Kluger G, Schubert-Bast S, Bayat A, Bobylova M, Bonanni P, Ceulemans B, Coppola A, Di Bonaventura C, Feucht M, Fuchs A, Gröppel G, Heimer G, Herdt B, Kulikova S, Mukhin K, Nicassio S, Orsini A, Panagiotou M, Pringsheim M, Puest B, Pylaeva O, Ramantani G, Tsekoura M, Ricciardelli P, Lerman Sagie T, Stark B, Striano P, van Baalen A, De Wachter M, Cerulli Irelli E, Cuccurullo C, von Stülpnagel C, Russo A
Epilepsia 2023 Apr;64(4):866-874. Epub 2023 Feb 20 doi: 10.1111/epi.17530. PMID: 36734057
Mechanisms of action of currently used antiseizure drugs.
Sills GJ, Rogawski MA
Neuropharmacology 2020 May 15;168:107966. Epub 2020 Jan 14 doi: 10.1016/j.neuropharm.2020.107966. PMID: 32120063
Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study.
Verbeek NE, van der Maas NA, Jansen FE, van Kempen MJ, Lindhout D, Brilstra EH
PLoS One 2013;8(6):e65758. Epub 2013 Jun 6 doi: 10.1371/journal.pone.0065758. PMID: 23762420Free PMC Article

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