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Myoclonic absence status epilepticus

MedGen UID:
1711298
•Concept ID:
C5397870
•
Disease or Syndrome
HPO: HP:0032865

Definition

Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyoclonic absence status epilepticus

Professional guidelines

PubMed

Epilepsy with myoclonic absences: a case series highlighting clinical heterogeneity and surgical management.
Carter EG, Armour EA, Pagano LM, Reddy SB
Epileptic Disord 2022 Jun 1;24(3):541-547. doi: 10.1684/epd.2022.1420. PMID: 35770757

Recent clinical studies

Etiology

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.
Donnan AM, Schneider AL, Russ-Hall S, Churilov L, Scheffer IE
Neurology 2023 Apr 18;100(16):e1712-e1722. Epub 2023 Feb 7 doi: 10.1212/WNL.0000000000207080. PMID: 36750385Free PMC Article
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
Dravet Syndrome: A Review of Current Management.
Wheless JW, Fulton SP, Mudigoudar BD
Pediatr Neurol 2020 Jun;107:28-40. Epub 2020 Jan 31 doi: 10.1016/j.pediatrneurol.2020.01.005. PMID: 32165031
Cefepime-induced neurotoxicity: a systematic review.
Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.
Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR
Lancet Neurol 2016 Mar;15(3):270-8. Epub 2015 Dec 24 doi: 10.1016/S1474-4422(15)00379-8. PMID: 26724101

Diagnosis

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
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V
Epilepsia 2021 Jul;62(7):e103-e109. Epub 2021 May 26 doi: 10.1111/epi.16931. PMID: 34041744Free PMC Article
Dravet Syndrome: A Review of Current Management.
Wheless JW, Fulton SP, Mudigoudar BD
Pediatr Neurol 2020 Jun;107:28-40. Epub 2020 Jan 31 doi: 10.1016/j.pediatrneurol.2020.01.005. PMID: 32165031
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
Cefepime-induced neurotoxicity: a systematic review.
Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article

Therapy

Epilepsy in Angelman syndrome: A scoping review.
Samanta D
Brain Dev 2021 Jan;43(1):32-44. Epub 2020 Sep 4 doi: 10.1016/j.braindev.2020.08.014. PMID: 32893075Free PMC Article
Dravet Syndrome: A Review of Current Management.
Wheless JW, Fulton SP, Mudigoudar BD
Pediatr Neurol 2020 Jun;107:28-40. Epub 2020 Jan 31 doi: 10.1016/j.pediatrneurol.2020.01.005. PMID: 32165031
Cefepime-induced neurotoxicity: a systematic review.
Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS
Brain 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. PMID: 28379373
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.
Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR
Lancet Neurol 2016 Mar;15(3):270-8. Epub 2015 Dec 24 doi: 10.1016/S1474-4422(15)00379-8. PMID: 26724101

Prognosis

Dravet Syndrome: A Review of Current Management.
Wheless JW, Fulton SP, Mudigoudar BD
Pediatr Neurol 2020 Jun;107:28-40. Epub 2020 Jan 31 doi: 10.1016/j.pediatrneurol.2020.01.005. PMID: 32165031
Cefepime-induced neurotoxicity: a systematic review.
Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS
Brain 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. PMID: 28379373
From genotype to phenotype in Dravet disease.
Gataullina S, Dulac O
Seizure 2017 Jan;44:58-64. Epub 2016 Oct 21 doi: 10.1016/j.seizure.2016.10.014. PMID: 27817982
Mitochondrial disorders and epilepsy.
Desguerre I, Hully M, Rio M, Nabbout R
Rev Neurol (Paris) 2014 May;170(5):375-80. Epub 2014 May 5 doi: 10.1016/j.neurol.2014.03.010. PMID: 24810279

Clinical prediction guides

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A
Epilepsia 2024 Apr;65(4):1046-1059. Epub 2024 Feb 27 doi: 10.1111/epi.17882. PMID: 38410936
Dravet syndrome: A systematic literature review of the illness burden.
Strzelczyk A, Lagae L, Wilmshurst JM, Brunklaus A, Striano P, Rosenow F, Schubert-Bast S
Epilepsia Open 2023 Dec;8(4):1256-1270. Epub 2023 Oct 11 doi: 10.1002/epi4.12832. PMID: 37750463Free PMC Article
On pathways and blind alleys-The importance of biomarkers in vitamin B(6) -dependent epilepsies.
Plecko B
J Inherit Metab Dis 2023 Sep;46(5):839-847. Epub 2023 Jul 27 doi: 10.1002/jimd.12655. PMID: 37428623
Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies.
Donnan AM, Schneider AL, Russ-Hall S, Churilov L, Scheffer IE
Neurology 2023 Apr 18;100(16):e1712-e1722. Epub 2023 Feb 7 doi: 10.1212/WNL.0000000000207080. PMID: 36750385Free PMC Article
Sleep and epilepsy syndromes.
Schmitt B
Neuropediatrics 2015 Jun;46(3):171-80. Epub 2015 May 12 doi: 10.1055/s-0035-1551574. PMID: 25965811

Recent systematic reviews

Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.
Fang C, Yang L, Xiao F, Yan K, Zhou W
Epilepsy Res 2024 May;202:107363. Epub 2024 Apr 17 doi: 10.1016/j.eplepsyres.2024.107363. PMID: 38636407
Diagnosis and treatment of status epilepticus in Down Syndrome (DS): A case report and systematic literature review.
Corniello C, Dono F, Evangelista G, Thomas A, Onofrj M, Sensi SL
Seizure 2024 Jan;114:90-95. Epub 2023 Nov 20 doi: 10.1016/j.seizure.2023.11.009. PMID: 38101201
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
A systematic review of adults with Dravet syndrome.
Selvarajah A, Zulfiqar-Ali Q, Marques P, Rong M, Andrade DM
Seizure 2021 Apr;87:39-45. Epub 2021 Feb 22 doi: 10.1016/j.seizure.2021.02.025. PMID: 33677403
Cefepime-induced neurotoxicity: a systematic review.
Payne LE, Gagnon DJ, Riker RR, Seder DB, Glisic EK, Morris JG, Fraser GL
Crit Care 2017 Nov 14;21(1):276. doi: 10.1186/s13054-017-1856-1. PMID: 29137682Free PMC Article

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