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Absence seizure with eyelid myoclonia

MedGen UID:
581541
Concept ID:
C0393722
Disease or Syndrome
Synonym: Absence seizures with eyelid myoclonia
SNOMED CT: Eyelid myoclonus with absences (230447004); Absence seizure with eyelid myoclonia (230447004)
 
HPO: HP:0011149

Definition

An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsence seizure with eyelid myoclonia

Conditions with this feature

Constitutional megaloblastic anemia with severe neurologic disease
MedGen UID:
462555
Concept ID:
C3151205
Disease or Syndrome
Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.
Intellectual developmental disorder 60 with seizures
MedGen UID:
1684702
Concept ID:
C5231497
Disease or Syndrome
Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019).

Professional guidelines

PubMed

Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, Zuberi SM, Alsaadi T, Jain S, French J, Specchio N, Trinka E, Wiebe S, Auvin S, Cabral-Lim L, Naidoo A, Perucca E, Moshé SL, Wirrell EC, Tinuper P
Epilepsia 2022 Jun;63(6):1443-1474. Epub 2022 May 3 doi: 10.1111/epi.17240. PMID: 35503725
Rossetti AO, Alvarez V
Curr Opin Neurol 2021 Apr 1;34(2):172-181. doi: 10.1097/WCO.0000000000000899. PMID: 33664203
Mocellin R, Walterfang M, Velakoulis D
CNS Drugs 2007;21(10):799-811. doi: 10.2165/00023210-200721100-00002. PMID: 17850170

Recent clinical studies

Etiology

Nevitt SJ, Sudell M, Cividini S, Marson AG, Tudur Smith C
Cochrane Database Syst Rev 2022 Apr 1;4(4):CD011412. doi: 10.1002/14651858.CD011412.pub4. PMID: 35363878Free PMC Article
Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P
Seizure 2019 Oct;71:247-257. Epub 2019 Aug 23 doi: 10.1016/j.seizure.2019.08.012. PMID: 31476531Free PMC Article
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
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
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA
Epileptic Disord 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. PMID: 27702709Free PMC Article

Diagnosis

Vonberg FW, Dawson A, Scott G, Davies N
Pract Neurol 2023 Apr;23(2):157-159. Epub 2022 Dec 8 doi: 10.1136/pn-2022-003597. PMID: 36601749
Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, Zuberi SM, Alsaadi T, Jain S, French J, Specchio N, Trinka E, Wiebe S, Auvin S, Cabral-Lim L, Naidoo A, Perucca E, Moshé SL, Wirrell EC, Tinuper P
Epilepsia 2022 Jun;63(6):1443-1474. Epub 2022 May 3 doi: 10.1111/epi.17240. PMID: 35503725
Rossetti AO, Alvarez V
Curr Opin Neurol 2021 Apr 1;34(2):172-181. doi: 10.1097/WCO.0000000000000899. PMID: 33664203
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
Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, Lagae L, Moshé SL, Peltola J, Roulet Perez E, Scheffer IE, Zuberi SM
Epilepsia 2017 Apr;58(4):522-530. Epub 2017 Mar 8 doi: 10.1111/epi.13670. PMID: 28276060

Therapy

Vonberg FW, Dawson A, Scott G, Davies N
Pract Neurol 2023 Apr;23(2):157-159. Epub 2022 Dec 8 doi: 10.1136/pn-2022-003597. PMID: 36601749
Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, Zuberi SM, Alsaadi T, Jain S, French J, Specchio N, Trinka E, Wiebe S, Auvin S, Cabral-Lim L, Naidoo A, Perucca E, Moshé SL, Wirrell EC, Tinuper P
Epilepsia 2022 Jun;63(6):1443-1474. Epub 2022 May 3 doi: 10.1111/epi.17240. PMID: 35503725
Rossetti AO, Alvarez V
Curr Opin Neurol 2021 Apr 1;34(2):172-181. doi: 10.1097/WCO.0000000000000899. PMID: 33664203
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
Bhattacharyya S, Darby RR, Raibagkar P, Gonzalez Castro LN, Berkowitz AL
Neurology 2016 Mar 8;86(10):963-71. Epub 2016 Feb 17 doi: 10.1212/WNL.0000000000002455. PMID: 26888997

Prognosis

Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Zawar I, Knight EP
Pediatr Neurol 2021 Aug;121:75-80. Epub 2020 Dec 1 doi: 10.1016/j.pediatrneurol.2020.11.018. PMID: 34167046
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
Gofton TE, Young GB
Nat Rev Neurol 2012 Oct;8(10):557-66. Epub 2012 Sep 18 doi: 10.1038/nrneurol.2012.183. PMID: 22986430

Clinical prediction guides

Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
Cherian A, K P D, Vijayaraghavan A
Curr Opin Neurol 2023 Aug 1;36(4):292-301. Epub 2023 May 24 doi: 10.1097/WCO.0000000000001167. PMID: 37366140
Ruijter BJ, Keijzer HM, Tjepkema-Cloostermans MC, Blans MJ, Beishuizen A, Tromp SC, Scholten E, Horn J, van Rootselaar AF, Admiraal MM, van den Bergh WM, Elting JJ, Foudraine NA, Kornips FHM, van Kranen-Mastenbroek VHJM, Rouhl RPW, Thomeer EC, Moudrous W, Nijhuis FAP, Booij SJ, Hoedemaekers CWE, Doorduin J, Taccone FS, van der Palen J, van Putten MJAM, Hofmeijer J; TELSTAR Investigators
N Engl J Med 2022 Feb 24;386(8):724-734. doi: 10.1056/NEJMoa2115998. PMID: 35196426
Zawar I, Knight EP
Pediatr Neurol 2021 Aug;121:75-80. Epub 2020 Dec 1 doi: 10.1016/j.pediatrneurol.2020.11.018. PMID: 34167046
Noerr B
Neonatal Netw 2000 Dec;19(8):65-7. doi: 10.1891/0730-0832.19.8.65. PMID: 11949276

Recent systematic reviews

Imbalzano G, Ledda C, Romagnolo A, Covolo A, Lopiano L, Artusi CA
J Neurol 2024 Jul;271(7):3897-3907. Epub 2024 May 21 doi: 10.1007/s00415-024-12439-5. PMID: 38771384Free PMC Article
Corniello C, Dono F, Evangelista G, Consoli S, De Angelis S, Cipollone S, Liviello D, Polito G, Melchiorre S, Russo M, Granzotto A, Anzellotti F, Onofrj M, Thomas A, Sensi SL
Seizure 2023 Jul;109:62-67. Epub 2023 May 21 doi: 10.1016/j.seizure.2023.05.017. PMID: 37267668
Nevitt SJ, Sudell M, Cividini S, Marson AG, Tudur Smith C
Cochrane Database Syst Rev 2022 Apr 1;4(4):CD011412. doi: 10.1002/14651858.CD011412.pub4. PMID: 35363878Free PMC Article
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
Deshayes S, Coquerel A, Verdon R
Drug Saf 2017 Dec;40(12):1171-1198. doi: 10.1007/s40264-017-0578-2. PMID: 28755095

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