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Myoclonic encephalopathy

MedGen UID:
98508
•Concept ID:
C0438414
•
Disease or Syndrome
Synonyms: Encephalopathies, Myoclonic; Encephalopathy, Myoclonic; Myoclonic Encephalopathies; Myoclonic Encephalopathy
SNOMED CT: Myoclonic encephalopathy (192845009)

Professional guidelines

PubMed

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
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A
Ann Neurol 2017 Mar;81(3):419-429. Epub 2017 Feb 14 doi: 10.1002/ana.24883. PMID: 28133863Free PMC Article
Early treatment of infantile spasms (West syndrome) and of myoclonic encephalopathy.
Gordon N
Dev Med Child Neurol 1990 Apr;32(4):363. doi: 10.1111/j.1469-8749.1990.tb16950.x. PMID: 2158918

Recent clinical studies

Etiology

Current understanding and neurobiology of epileptic encephalopathies.
Auvin S, Cilio MR, Vezzani A
Neurobiol Dis 2016 Aug;92(Pt A):72-89. Epub 2016 Mar 16 doi: 10.1016/j.nbd.2016.03.007. PMID: 26992889
Neonatal seizures and syndromes.
Tharp BR
Epilepsia 2002;43 Suppl 3:2-10. doi: 10.1046/j.1528-1157.43.s.3.11.x. PMID: 12060001
Spasms in clusters in epilepsies other than typical West syndrome.
Ohtsuka Y, Kobayashi K, Ogino T, Oka E
Brain Dev 2001 Nov;23(7):473-81. doi: 10.1016/s0387-7604(01)00289-3. PMID: 11701241
Neurotoxicity of antibacterial therapy.
Thomas RJ
South Med J 1994 Sep;87(9):869-74. doi: 10.1097/00007611-199409000-00001. PMID: 8091248
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions.
Lombroso CT
J Clin Neurophysiol 1990 Jul;7(3):380-408. doi: 10.1097/00004691-199007000-00005. PMID: 2120281

Diagnosis

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
Genetics of neonatal-onset epilepsies.
Cornet MC, Cilio MR
Handb Clin Neurol 2019;162:415-433. doi: 10.1016/B978-0-444-64029-1.00020-5. PMID: 31324323
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
The burst-suppression electroencephalogram.
Niedermeyer E
Am J Electroneurodiagnostic Technol 2009 Dec;49(4):333-41. PMID: 20073416
Epileptic encephalopathy.
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318

Therapy

Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine.
Nakano K, Kobayashi K, Maniwa S, Kodani N, Ohtsuka Y
Epileptic Disord 2013 Sep;15(3):352-7. doi: 10.1684/epd.2013.0593. PMID: 23886871
Early myoclonic encephalopathy.
Kamate M, Mahantshetti N, Chetal V
Indian Pediatr 2009 Sep;46(9):804-6. PMID: 19812426
Epileptic encephalopathy.
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318
Acute reversible myoclonic encephalopathy associated with fluoxetine therapy.
Ghika-Schmid F, Ghika J, Vuadens P, Bogousslavsky J, Regli F, Despland PA
Mov Disord 1997 Jul;12(4):622-3. doi: 10.1002/mds.870120431. PMID: 9251093
Bismuth absorption and myoclonic encephalopathy during bismuth subsalicylate therapy.
Mendelowitz PC, Hoffman RS, Weber S
Ann Intern Med 1990 Jan 15;112(2):140-1. doi: 10.7326/0003-4819-112-2-140. PMID: 2294817

Prognosis

Comment: Amenable Treatable Severe Pediatric Epilepsies.
Pearl PL
Semin Pediatr Neurol 2023 Oct;47:101073. Epub 2023 Aug 6 doi: 10.1016/j.spen.2023.101073. PMID: 37919041
Uncommon epileptic syndromes in children: a review.
de la Jara J, Vásquez-Hernández C, Ramírez-Rojo E, Moya-Vilches J
Seizure 2021 Aug;90:17-27. Epub 2021 May 13 doi: 10.1016/j.seizure.2021.05.005. PMID: 34023208
Amenable Treatable Severe Pediatric Epilepsies.
Pearl PL
Semin Pediatr Neurol 2016 May;23(2):158-66. Epub 2016 Jun 7 doi: 10.1016/j.spen.2016.06.004. PMID: 27544473
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
Disorders of amino acid metabolism associated with epilepsy.
Lee WT
Brain Dev 2011 Oct;33(9):745-52. Epub 2011 Jul 30 doi: 10.1016/j.braindev.2011.06.014. PMID: 21803516

Clinical prediction guides

Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J, Popp B, Brennenstuhl H, Döring JH, Donze SH, Bijlsma EK, van Haeringen A, Huhle D, Jestaedt L, Merkenschlager A, Arelin M, Gräfe D, Neuser S, Oates S, Pal DK, Parker MJ, Lemke JR, Hoffmann GF, Kölker S, Harting I, Syrbe S
Eur J Hum Genet 2022 Mar;30(3):298-306. Epub 2022 Jan 11 doi: 10.1038/s41431-021-01027-0. PMID: 35017693Free PMC Article
High-frequency rhythmic cortical myoclonus in a long-surviving patient with nonketotic hypergylcemia.
Mastrangelo M, Canafoglia L, Franceschetti S, Oppezzo C, Mosca F, Menni F, Parini R, Ciano C, Scaioli V, Panzica F
J Child Neurol 2008 Mar;23(3):321-4. Epub 2008 Jan 8 doi: 10.1177/0883073807308699. PMID: 18182648
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other?
Djukic A, Lado FA, Shinnar S, Moshé SL
Epilepsy Res 2006 Aug;70 Suppl 1:S68-76. Epub 2006 Jul 7 doi: 10.1016/j.eplepsyres.2005.11.022. PMID: 16829044
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions.
Lombroso CT
J Clin Neurophysiol 1990 Jul;7(3):380-408. doi: 10.1097/00004691-199007000-00005. PMID: 2120281
Myoclonic encephalopathy of infants. A report of two cases and observations on related disorders.
Christoff N
Arch Neurol 1969 Sep;21(3):229-34. doi: 10.1001/archneur.1969.00480150019001. PMID: 4308397

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