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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
Myoclonus and epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine and zonisamide.
Wallace SJ
Epilepsy Res 1998 Jan;29(2):147-54. doi: 10.1016/s0920-1211(97)00080-6. PMID: 9477147

Recent clinical studies

Etiology

Benign and severe early-life seizures: a round in the first year of life.
Pavone P, Corsello G, Ruggieri M, Marino S, Marino S, Falsaperla R
Ital J Pediatr 2018 May 15;44(1):54. doi: 10.1186/s13052-018-0491-z. PMID: 29764460Free PMC Article
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.
Shbarou R, Mikati MA
Semin Pediatr Neurol 2016 May;23(2):134-42. Epub 2016 Jun 2 doi: 10.1016/j.spen.2016.06.002. PMID: 27544470
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
Neurotoxicity of antibacterial therapy.
Thomas RJ
South Med J 1994 Sep;87(9):869-74. doi: 10.1097/00007611-199409000-00001. PMID: 8091248

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
Epileptic encephalopathy.
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318
Neurotoxicity of antibacterial therapy.
Thomas RJ
South Med J 1994 Sep;87(9):869-74. doi: 10.1097/00007611-199409000-00001. PMID: 8091248

Therapy

Early myoclonic encephalopathy.
Kamate M, Mahantshetti N, Chetal V
Indian Pediatr 2009 Sep;46(9):804-6. PMID: 19812426
Epileptic encephalopathies: a brief overview.
Nabbout R, Dulac O
J Clin Neurophysiol 2003 Nov-Dec;20(6):393-7. doi: 10.1097/00004691-200311000-00002. PMID: 14734929
Epileptic encephalopathy.
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318
Carisoprodol-induced myoclonic encephalopathy.
Roth BA, Vinson DR, Kim S
J Toxicol Clin Toxicol 1998;36(6):609-12. doi: 10.3109/15563659809028058. PMID: 9776967
Neurotoxicity of antibacterial therapy.
Thomas RJ
South Med J 1994 Sep;87(9):869-74. doi: 10.1097/00007611-199409000-00001. PMID: 8091248

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
The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.
Shbarou R, Mikati MA
Semin Pediatr Neurol 2016 May;23(2):134-42. Epub 2016 Jun 2 doi: 10.1016/j.spen.2016.06.002. PMID: 27544470
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

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
Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation.
Takeda K, Miyamoto Y, Yamamoto H, Ishii A, Hirose S, Yamamoto H
Brain Dev 2020 Jan;42(1):73-76. Epub 2019 Sep 3 doi: 10.1016/j.braindev.2019.08.003. PMID: 31492455
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
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

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