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Focal motor seizure with dystonia

MedGen UID:
1709514
Concept ID:
C5397728
Disease or Syndrome
HPO: HP:0032718

Definition

A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain
Mov Disord 2024 Sep;39(9):1578-1591. Epub 2024 Jun 16 doi: 10.1002/mds.29881. PMID: 38881224
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article
De Paolis F, Colizzi E, Milioli G, Grassi A, Riccardi S, Puligheddu M, Terzano MG, Marrosu F, Parrino L
Sleep Med 2013 Jul;14(7):597-604. Epub 2013 Jun 7 doi: 10.1016/j.sleep.2013.02.014. PMID: 23746822

Recent clinical studies

Etiology

Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain
Mov Disord 2024 Sep;39(9):1578-1591. Epub 2024 Jun 16 doi: 10.1002/mds.29881. PMID: 38881224
Lin N, Liu Q, Chen J, Jin L, Huang Y, Lu Q, Guan H
Epilepsy Behav 2021 Sep;122:108159. Epub 2021 Jul 3 doi: 10.1016/j.yebeh.2021.108159. PMID: 34229158
Fasano A, Di Bonaventura C, Bove F, Espay AJ, Morgante F, Fabbrini G, Munhoz RP, Andrade D, Borlot F, Bui E, Di Gennaro G, Iorio R, Katzberg H, Luigetti M, Striano P, Defazio G, Berardelli A
Parkinsonism Relat Disord 2019 Apr;61:161-165. Epub 2018 Oct 16 doi: 10.1016/j.parkreldis.2018.10.021. PMID: 30361137
Anzellotti F, Capasso M, Frazzini V, Onofrj M
Epileptic Disord 2016 Mar;18(1):83-6. doi: 10.1684/epd.2016.0805. PMID: 26898965
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP
Neurology 2015 Feb 3;84(5):480-9. Epub 2015 Jan 7 doi: 10.1212/WNL.0000000000001211. PMID: 25568300Free PMC Article

Diagnosis

Muthaffar OY, Alyazidi AS
Neurosciences (Riyadh) 2024 May;29(2):71-76. doi: 10.17712/nsj.2024.2.20230074. PMID: 38740401Free PMC Article
Wu S, Nordli DR
Handb Clin Neurol 2023;196:295-304. doi: 10.1016/B978-0-323-98817-9.00014-4. PMID: 37620075
Fasano A, Di Bonaventura C, Bove F, Espay AJ, Morgante F, Fabbrini G, Munhoz RP, Andrade D, Borlot F, Bui E, Di Gennaro G, Iorio R, Katzberg H, Luigetti M, Striano P, Defazio G, Berardelli A
Parkinsonism Relat Disord 2019 Apr;61:161-165. Epub 2018 Oct 16 doi: 10.1016/j.parkreldis.2018.10.021. PMID: 30361137
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article
Anzellotti F, Capasso M, Frazzini V, Onofrj M
Epileptic Disord 2016 Mar;18(1):83-6. doi: 10.1684/epd.2016.0805. PMID: 26898965

Therapy

Muthaffar OY, Alyazidi AS
Neurosciences (Riyadh) 2024 May;29(2):71-76. doi: 10.17712/nsj.2024.2.20230074. PMID: 38740401Free PMC Article
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article
Anzellotti F, Capasso M, Frazzini V, Onofrj M
Epileptic Disord 2016 Mar;18(1):83-6. doi: 10.1684/epd.2016.0805. PMID: 26898965
Vigevano F, Bartuli A
J Child Neurol 2002 Dec;17 Suppl 3:3S9-13; discussion 3S14. PMID: 12597051
Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, Manson JI
Lancet 1994 Feb 26;343(8896):515-7. doi: 10.1016/s0140-6736(94)91463-x. PMID: 7906762

Prognosis

Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article
Marashly A, Ewida A, Agarwal R, Younes K, Lüders HO
Epilepsia 2016 Mar;57(3):369-75. Epub 2016 Feb 11 doi: 10.1111/epi.13322. PMID: 26864781
Baulac M
Rev Neurol (Paris) 2015 Mar;171(3):259-66. Epub 2015 Feb 26 doi: 10.1016/j.neurol.2015.02.004. PMID: 25727907
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP
Neurology 2015 Feb 3;84(5):480-9. Epub 2015 Jan 7 doi: 10.1212/WNL.0000000000001211. PMID: 25568300Free PMC Article
Tassinari CA, Rubboli G, Volpi L, Meletti S, d'Orsi G, Franca M, Sabetta AR, Riguzzi P, Gardella E, Zaniboni A, Michelucci R
Clin Neurophysiol 2000 Sep;111 Suppl 2:S94-S102. doi: 10.1016/s1388-2457(00)00408-9. PMID: 10996561

Clinical prediction guides

Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain
Mov Disord 2024 Sep;39(9):1578-1591. Epub 2024 Jun 16 doi: 10.1002/mds.29881. PMID: 38881224
Wu S, Nordli DR
Handb Clin Neurol 2023;196:295-304. doi: 10.1016/B978-0-323-98817-9.00014-4. PMID: 37620075
Wictorin K, Puschmann A
Neurol Neurochir Pol 2020;54(1):3-5. doi: 10.5603/PJNNS.a2020.0013. PMID: 32115676
Espay AJ, Aybek S, Carson A, Edwards MJ, Goldstein LH, Hallett M, LaFaver K, LaFrance WC Jr, Lang AE, Nicholson T, Nielsen G, Reuber M, Voon V, Stone J, Morgante F
JAMA Neurol 2018 Sep 1;75(9):1132-1141. doi: 10.1001/jamaneurol.2018.1264. PMID: 29868890Free PMC Article
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS; EuroEPINOMICS RES Consortium CRP
Neurology 2015 Feb 3;84(5):480-9. Epub 2015 Jan 7 doi: 10.1212/WNL.0000000000001211. PMID: 25568300Free PMC Article

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