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Epilepsy, Tonic-Clonic, Familial

MedGen UID:
196726
•Concept ID:
C0751118
•
Disease or Syndrome
Synonyms: Epilepsies, Familial Tonic-Clonic; Epilepsy, Familial Tonic-Clonic; Familial Tonic Clonic Epilepsy; Familial Tonic-Clonic Epilepsies; Familial Tonic-Clonic Epilepsy; Tonic-Clonic Epilepsies, Familial; Tonic-Clonic Epilepsy, Familial

Professional guidelines

PubMed

Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication: Practice Guideline From the AAN, AES, and SMFM.
Pack AM, Oskoui M, Williams Roberson S, Donley DK, French J, Gerard EE, Gloss D, Miller WR, Munger Clary HM, Osmundson SS, McFadden B, Parratt K, Pennell PB, Saade G, Smith DB, Sullivan K, Thomas SV, Tomson T, Dolan O'Brien M, Botchway-Doe K, Silsbee HM, Keezer MR
Neurology 2024 Jun;102(11):e209279. Epub 2024 May 15 doi: 10.1212/WNL.0000000000209279. PMID: 38748979Free PMC Article
Differential diagnosis of familial adult myoclonic epilepsy.
Baykan B, Franceschetti S, Canafoglia L, Cavalleri GL, Michelucci R, Scheffer IE
Epilepsia 2023 Jun;64 Suppl 1:S52-S57. Epub 2023 Feb 21 doi: 10.1111/epi.17536. PMID: 36751956
Consensus statement for the management of generalized tonic-clonic seizures in Spain.
Gil-Nagel A, Álvarez Carriles J, Bermejo P, Carreño M, García-Morales I, García Peñas JJ, López-González FJ, Ruíz-Falcó M, Sánchez JC, Tato C
Acta Neurol Scand 2020 Jan;141(1):22-32. Epub 2019 Oct 21 doi: 10.1111/ane.13169. PMID: 31529468

Recent clinical studies

Etiology

SUDEP counseling: Where do we stand?
Whitney R, Jones KC, Sharma S, RamachandranNair R
Epilepsia 2023 Jun;64(6):1424-1431. Epub 2023 Apr 21 doi: 10.1111/epi.17617. PMID: 37039574
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan JE, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Shore S, Agarwal A, Lock M, Farfel GM, Galer BS, Gammaitoni AR, Davis R, Gil-Nagel A
JAMA Neurol 2022 Jun 1;79(6):554-564. doi: 10.1001/jamaneurol.2022.0829. PMID: 35499850Free PMC Article
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G
Brain 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. PMID: 34114611
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C
Hum Genet 2021 Jul;140(7):1109-1120. Epub 2021 May 4 doi: 10.1007/s00439-021-02283-2. PMID: 33944996Free PMC Article
Epilepsy.
Marson AG, Maguire M, Ramaratnam S
BMJ Clin Evid 2009 Jan 28;2009 PMID: 19445769

Diagnosis

SUDEP counseling: Where do we stand?
Whitney R, Jones KC, Sharma S, RamachandranNair R
Epilepsia 2023 Jun;64(6):1424-1431. Epub 2023 Apr 21 doi: 10.1111/epi.17617. PMID: 37039574
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan JE, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Shore S, Agarwal A, Lock M, Farfel GM, Galer BS, Gammaitoni AR, Davis R, Gil-Nagel A
JAMA Neurol 2022 Jun 1;79(6):554-564. doi: 10.1001/jamaneurol.2022.0829. PMID: 35499850Free PMC Article
SCN1A-related phenotypes: Epilepsy and beyond.
Scheffer IE, Nabbout R
Epilepsia 2019 Dec;60 Suppl 3:S17-S24. doi: 10.1111/epi.16386. PMID: 31904117
Epilepsy Overview and Revised Classification of Seizures and Epilepsies.
Pack AM
Continuum (Minneap Minn) 2019 Apr;25(2):306-321. doi: 10.1212/CON.0000000000000707. PMID: 30921011
Epilepsy.
Marson AG, Maguire M, Ramaratnam S
BMJ Clin Evid 2009 Jan 28;2009 PMID: 19445769

Therapy

Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication: Practice Guideline From the AAN, AES, and SMFM.
Pack AM, Oskoui M, Williams Roberson S, Donley DK, French J, Gerard EE, Gloss D, Miller WR, Munger Clary HM, Osmundson SS, McFadden B, Parratt K, Pennell PB, Saade G, Smith DB, Sullivan K, Thomas SV, Tomson T, Dolan O'Brien M, Botchway-Doe K, Silsbee HM, Keezer MR
Neurology 2024 Jun;102(11):e209279. Epub 2024 May 15 doi: 10.1212/WNL.0000000000209279. PMID: 38748979Free PMC Article
A comprehensive narrative review of epilepsy with eyelid myoclonia.
Smith KM, Wirrell EC, Andrade DM, Choi H, Trenité DK, Knupp KG, Nordli DR Jr, Riva A, Stern JM, Striano P, Thiele EA, Zawar I
Epilepsy Res 2023 Jul;193:107147. Epub 2023 Apr 26 doi: 10.1016/j.eplepsyres.2023.107147. PMID: 37121024
Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan JE, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Shore S, Agarwal A, Lock M, Farfel GM, Galer BS, Gammaitoni AR, Davis R, Gil-Nagel A
JAMA Neurol 2022 Jun 1;79(6):554-564. doi: 10.1001/jamaneurol.2022.0829. PMID: 35499850Free PMC Article
Epilepsy.
Marson AG, Maguire M, Ramaratnam S
BMJ Clin Evid 2009 Jan 28;2009 PMID: 19445769
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Prognosis

Drug-resistant idiopathic generalized epilepsy: A meta-analysis of prevalence and risk factors.
Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG
Epilepsia 2022 Apr;63(4):974-991. Epub 2022 Feb 18 doi: 10.1111/epi.17173. PMID: 35179230
Familial adult myoclonic epilepsy: A new expansion repeats disorder.
Lagorio I, Zara F, Striano S, Striano P
Seizure 2019 Apr;67:73-77. Epub 2019 Mar 19 doi: 10.1016/j.seizure.2019.03.009. PMID: 30928698
Ondansetron and seizures.
Singh NN, Rai A, Selhorst JB, Acharya JN
Epilepsia 2009 Dec;50(12):2663-6. Epub 2009 Jun 1 doi: 10.1111/j.1528-1167.2009.02139.x. PMID: 19490041
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Clinical prediction guides

Efficacy and Safety of Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut Syndrome: A Randomized Clinical Trial.
Knupp KG, Scheffer IE, Ceulemans B, Sullivan JE, Nickels KC, Lagae L, Guerrini R, Zuberi SM, Nabbout R, Riney K, Shore S, Agarwal A, Lock M, Farfel GM, Galer BS, Gammaitoni AR, Davis R, Gil-Nagel A
JAMA Neurol 2022 Jun 1;79(6):554-564. doi: 10.1001/jamaneurol.2022.0829. PMID: 35499850Free PMC Article
PIGN encephalopathy: Characterizing the epileptology.
Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG
Epilepsia 2022 Apr;63(4):974-991. Epub 2022 Feb 18 doi: 10.1111/epi.17173. PMID: 35179230
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G
Brain 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. PMID: 34114611
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C
Hum Genet 2021 Jul;140(7):1109-1120. Epub 2021 May 4 doi: 10.1007/s00439-021-02283-2. PMID: 33944996Free PMC Article
Epilepsy.
Marson AG, Maguire M, Ramaratnam S
BMJ Clin Evid 2009 Jan 28;2009 PMID: 19445769

Recent systematic reviews

Drug-resistant idiopathic generalized epilepsy: A meta-analysis of prevalence and risk factors.
Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796
De novo late-onset absence status epilepticus or late-onset idiopathic generalized epilepsy? A case report and systematic review of the literature.
Brigo F, Tavernelli V, Nardone R, Trinka E
Epileptic Disord 2018 Apr 1;20(2):123-131. doi: 10.1684/epd.2018.0961. PMID: 29620008
Epilepsy.
Marson AG, Maguire M, Ramaratnam S
BMJ Clin Evid 2009 Jan 28;2009 PMID: 19445769

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