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Neonatal focal myoclonic seizure

MedGen UID:
1713369
•Concept ID:
C5397823
•
Disease or Syndrome
HPO: HP:0032817

Definition

Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal focal myoclonic seizure

Professional guidelines

PubMed

New GABA-Targeting Therapies for the Treatment of Seizures and Epilepsy: II. Treatments in Clinical Development.
Perucca E, White HS, Bialer M
CNS Drugs 2023 Sep;37(9):781-795. Epub 2023 Aug 21 doi: 10.1007/s40263-023-01025-4. PMID: 37603261Free PMC Article
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
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
Bayat A, Bayat M, Rubboli G, Møller RS
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071051. PMID: 34356067Free PMC Article

Recent clinical studies

Etiology

Pre-eclampsia.
Dimitriadis E, Rolnik DL, Zhou W, Estrada-Gutierrez G, Koga K, Francisco RPV, Whitehead C, Hyett J, da Silva Costa F, Nicolaides K, Menkhorst E
Nat Rev Dis Primers 2023 Feb 16;9(1):8. doi: 10.1038/s41572-023-00417-6. PMID: 36797292
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
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I
Brain 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. PMID: 35190816Free PMC Article
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM, Yamamoto H, Zuberi SM
Epilepsia 2021 Mar;62(3):615-628. Epub 2021 Feb 1 doi: 10.1111/epi.16815. PMID: 33522601
Perinatal Stroke.
Dunbar M, Kirton A
Semin Pediatr Neurol 2019 Dec;32:100767. Epub 2019 Aug 7 doi: 10.1016/j.spen.2019.08.003. PMID: 31813521

Diagnosis

Pre-eclampsia.
Dimitriadis E, Rolnik DL, Zhou W, Estrada-Gutierrez G, Koga K, Francisco RPV, Whitehead C, Hyett J, da Silva Costa F, Nicolaides K, Menkhorst E
Nat Rev Dis Primers 2023 Feb 16;9(1):8. doi: 10.1038/s41572-023-00417-6. PMID: 36797292
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
Genetic Epilepsy Syndromes.
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM, Yamamoto H, Zuberi SM
Epilepsia 2021 Mar;62(3):615-628. Epub 2021 Feb 1 doi: 10.1111/epi.16815. PMID: 33522601
Perinatal Stroke.
Dunbar M, Kirton A
Semin Pediatr Neurol 2019 Dec;32:100767. Epub 2019 Aug 7 doi: 10.1016/j.spen.2019.08.003. PMID: 31813521

Therapy

New GABA-Targeting Therapies for the Treatment of Seizures and Epilepsy: II. Treatments in Clinical Development.
Perucca E, White HS, Bialer M
CNS Drugs 2023 Sep;37(9):781-795. Epub 2023 Aug 21 doi: 10.1007/s40263-023-01025-4. PMID: 37603261Free PMC Article
Meconium-stained amniotic fluid.
Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
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
Lacosamide in status epilepticus: Systematic review of current evidence.
Strzelczyk A, Zöllner JP, Willems LM, Jost J, Paule E, Schubert-Bast S, Rosenow F, Bauer S
Epilepsia 2017 Jun;58(6):933-950. Epub 2017 Mar 11 doi: 10.1111/epi.13716. PMID: 28295226
Animal models.
Coppola A, Moshé SL
Handb Clin Neurol 2012;107:63-98. doi: 10.1016/B978-0-444-52898-8.00004-5. PMID: 22938964

Prognosis

Pre-eclampsia.
Dimitriadis E, Rolnik DL, Zhou W, Estrada-Gutierrez G, Koga K, Francisco RPV, Whitehead C, Hyett J, da Silva Costa F, Nicolaides K, Menkhorst E
Nat Rev Dis Primers 2023 Feb 16;9(1):8. doi: 10.1038/s41572-023-00417-6. PMID: 36797292
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
Genetic Epilepsy Syndromes.
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, Jollands A, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S, Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM, Stephen E, Webb A, Vincent A, Wilson M
Brain 2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195. PMID: 31302675Free PMC Article
Neonatal seizures.
Plouin P, Kaminska A
Handb Clin Neurol 2013;111:467-76. doi: 10.1016/B978-0-444-52891-9.00051-8. PMID: 23622196

Clinical prediction guides

Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I
Brain 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. PMID: 38015929Free PMC Article
Meconium-stained amniotic fluid.
Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
Pre-eclampsia.
Dimitriadis E, Rolnik DL, Zhou W, Estrada-Gutierrez G, Koga K, Francisco RPV, Whitehead C, Hyett J, da Silva Costa F, Nicolaides K, Menkhorst E
Nat Rev Dis Primers 2023 Feb 16;9(1):8. doi: 10.1038/s41572-023-00417-6. PMID: 36797292
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I
Brain 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. PMID: 35190816Free PMC Article
Neonatal seizures.
Painter MJ, Bergman I, Crumrine P
Pediatr Clin North Am 1986 Feb;33(1):91-109. doi: 10.1016/s0031-3955(16)34971-9. PMID: 3513103

Recent systematic reviews

Meconium-stained amniotic fluid.
Gallo DM, Romero R, Bosco M, Gotsch F, Jaiman S, Jung E, Suksai M, Ramón Y Cajal CL, Yoon BH, Chaiworapongsa T
Am J Obstet Gynecol 2023 May;228(5S):S1158-S1178. Epub 2023 Apr 1 doi: 10.1016/j.ajog.2022.11.1283. PMID: 37012128Free PMC Article
Isolated ictal apnea in neonatal age: Clinical features and treatment options. A systematic review.
Falsaperla R, Consentino MC, Vitaliti G, Marino S, Ruggieri M
Auton Neurosci 2022 Dec;243:103034. Epub 2022 Sep 14 doi: 10.1016/j.autneu.2022.103034. PMID: 36174277
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C, Fusco C, Percesepe A, Leuzzi V, Pisani F
Int J Mol Sci 2021 Apr 18;22(8) doi: 10.3390/ijms22084202. PMID: 33919646Free PMC Article
Lacosamide in status epilepticus: Systematic review of current evidence.
Strzelczyk A, Zöllner JP, Willems LM, Jost J, Paule E, Schubert-Bast S, Rosenow F, Bauer S
Epilepsia 2017 Jun;58(6):933-950. Epub 2017 Mar 11 doi: 10.1111/epi.13716. PMID: 28295226
Therapeutic hypothermia in the prevention of hypoxic-ischaemic encephalopathy: new categories to be enrolled.
Gancia P, Pomero G
J Matern Fetal Neonatal Med 2012 Oct;25 Suppl 4:94-6. doi: 10.3109/14767058.2012.715023. PMID: 22958032

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