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Early myoclonic encephalopathy

MedGen UID:: 124373
•Concept ID:: C0270855
•: Disease or Syndrome

Synonyms:	Early Myoclonic Encephalopathy; early myoclonic encephalopathy; Early myoclonic encephalopathy with suppression-bursts; early myoclonic encephalopathy with suppression-bursts; EME; epileptic seizures - myoclonic; epileptic seizures, myoclonic; myoclonia epileptica; myoclonic epilepsy; myoclonic seizure; myoclonic seizure disorder; myoclonus epilepsy; Symptomatic early myoclonic encephalopathy
SNOMED CT:	Symptomatic early myoclonic encephalopathy (44423001); Early myoclonic encephalopathy (44423001)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	SIK1, SLC25A22, SLC1A2

Monarch Initiative:	MONDO:0016022
Orphanet:	ORPHA1935

Definition

A rare disorder characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVEarly myoclonic encephalopathy

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Abnormality of the nervous system
      - Abnormal nervous system physiology
        Encephalopathy
        Early myoclonic encephalopathy
        Developmental and epileptic encephalopathy, 3
        Developmental and epileptic encephalopathy, 30
        Developmental and epileptic encephalopathy, 41

Follow this link to review classifications for Early myoclonic encephalopathy in Orphanet.

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: 34356067 Free 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: 28133863 Free 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

See all (6)

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: 29764460 Free 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

Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs. Ohtahara syndrome.

Murakami N, Ohtsuka Y, Ohtahara S
Jpn J Psychiatry Neurol 1993 Jun;47(2):197-200. doi: 10.1111/j.1440-1819.1993.tb02050.x. PMID: 8271543

See all (28)

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: 34356067 Free 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

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

Early myoclonic encephalopathy.

Kamate M, Mahantshetti N, Chetal V
Indian Pediatr 2009 Sep;46(9):804-6. PMID: 19812426

See all (48)

Therapy

Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.

Juliá-Palacios N, Molina-Anguita C, Sigatulina Bondarenko M, Cortès-Saladelafont E, Aparicio J, Cuadras D, Horvath G, Fons C, Artuch R, García-Cazorla À; Institut de Recerca Sant Joan de Déu Working Group
Dev Med Child Neurol 2022 Jul;64(7):915-923. Epub 2022 Jan 31 doi: 10.1111/dmcn.15140. PMID: 35833444

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.

Cusmai R, Martinelli D, Moavero R, Dionisi Vici C, Vigevano F, Castana C, Elia M, Bernabei S, Bevivino E
Eur J Paediatr Neurol 2012 Sep;16(5):509-13. Epub 2012 Jan 18 doi: 10.1016/j.ejpn.2011.12.015. PMID: 22261077

Early myoclonic encephalopathy.

Kamate M, Mahantshetti N, Chetal V
Indian Pediatr 2009 Sep;46(9):804-6. PMID: 19812426

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

Management issues in severe childhood epilepsies.

Wallace SJ
Seizure 1995 Sep;4(3):215-20. doi: 10.1016/s1059-1311(05)80064-0. PMID: 7582657

See all (18)

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

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

Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.

Beal JC, Cherian K, Moshe SL
Pediatr Neurol 2012 Nov;47(5):317-23. doi: 10.1016/j.pediatrneurol.2012.06.002. PMID: 23044011

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

See all (34)

Clinical prediction guides

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.

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

Management issues in severe childhood epilepsies.

Wallace SJ
Seizure 1995 Sep;4(3):215-20. doi: 10.1016/s1059-1311(05)80064-0. PMID: 7582657

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

See all (17)