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Myoclonic epilepsy in infancy

MedGen UID:
148242
•Concept ID:
C0751120
•
Disease or Syndrome
Synonym: Myoclonic epilepsy of infancy
SNOMED CT: Benign myoclonic epilepsy in infancy (192990004); Myoclonic epilepsy in infancy (192990004); MEI - myoclonic epilepsy in infancy (192990004)
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 recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0100566
Orphanet: ORPHA86909

Definition

A type of epilepsy that presents with myoclonic epileptic seizures between 4 months and 3 years of age, in an otherwise normal infant. The myoclonic epileptic seizures may be activated by sudden noise, startle, or touch, and less commonly by photic stimulation. The electroencephalogram must capture generalized epileptiform discharges or myoclonic epileptic seizures and have a normal background. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyoclonic epilepsy in infancy

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
Advances in the design and discovery of novel small molecule drugs for the treatment of Dravet Syndrome.
Miziak B, Czuczwar S
Expert Opin Drug Discov 2021 May;16(5):579-593. Epub 2020 Dec 17 doi: 10.1080/17460441.2021.1857722. PMID: 33275464
Antiepileptic drugs for the treatment of severe myoclonic epilepsy in infancy.
Brigo F, Storti M
Cochrane Database Syst Rev 2013 Nov 19;(11):CD010483. doi: 10.1002/14651858.CD010483.pub2. PMID: 24254932

Recent clinical studies

Etiology

Psychomotor development and seizure features in idiopathic myoclonic epilepsy in infancy.
Jiang Y, Zhou X
Medicine (Baltimore) 2022 Sep 23;101(38):e30512. doi: 10.1097/MD.0000000000030512. PMID: 36197249Free PMC Article
Common pediatric epilepsy syndromes.
Park JT, Shahid AM, Jammoul A
Pediatr Ann 2015 Feb;44(2):e30-5. doi: 10.3928/00904481-20150203-09. PMID: 25658216
Stiripentol.
Chiron C
Expert Opin Investig Drugs 2005 Jul;14(7):905-11. doi: 10.1517/13543784.14.7.905. PMID: 16022579
Benign myoclonic epilepsy in infancy.
Dravet C, Bureau M
Adv Neurol 2005;95:127-37. PMID: 15508918
Fever, genes, and epilepsy.
Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, Baulac M
Lancet Neurol 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. PMID: 15207799

Diagnosis

Psychomotor development and seizure features in idiopathic myoclonic epilepsy in infancy.
Jiang Y, Zhou X
Medicine (Baltimore) 2022 Sep 23;101(38):e30512. doi: 10.1097/MD.0000000000030512. PMID: 36197249Free PMC Article
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
Common pediatric epilepsy syndromes.
Park JT, Shahid AM, Jammoul A
Pediatr Ann 2015 Feb;44(2):e30-5. doi: 10.3928/00904481-20150203-09. PMID: 25658216
Idiopathic generalized epilepsies.
Caraballo RH, Dalla Bernardina B
Handb Clin Neurol 2013;111:579-89. doi: 10.1016/B978-0-444-52891-9.00060-9. PMID: 23622205
Epileptic encephalopathy.
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318

Therapy

Psychomotor development and seizure features in idiopathic myoclonic epilepsy in infancy.
Jiang Y, Zhou X
Medicine (Baltimore) 2022 Sep 23;101(38):e30512. doi: 10.1097/MD.0000000000030512. PMID: 36197249Free PMC Article
Stiripentol.
Chiron C
Neurotherapeutics 2007 Jan;4(1):123-5. doi: 10.1016/j.nurt.2006.10.001. PMID: 17199026Free PMC Article
Stiripentol.
Chiron C
Expert Opin Investig Drugs 2005 Jul;14(7):905-11. doi: 10.1517/13543784.14.7.905. PMID: 16022579
Benign myoclonic epilepsy in infancy.
Dravet C, Bureau M
Adv Neurol 2005;95:127-37. PMID: 15508918
Epileptic encephalopathy.
Dulac O
Epilepsia 2001;42 Suppl 3:23-6. doi: 10.1046/j.1528-1157.2001.042suppl.3023.x. PMID: 11520318

Prognosis

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
Common pediatric epilepsy syndromes.
Park JT, Shahid AM, Jammoul A
Pediatr Ann 2015 Feb;44(2):e30-5. doi: 10.3928/00904481-20150203-09. PMID: 25658216
Myoclonic epilepsy in infancy: one or two diseases?
Auvin S, de Bellescize J, Dravet C
Epileptic Disord 2013 Sep;15(3):241-2. doi: 10.1684/epd.2013.0606. PMID: 23996698
The core Dravet syndrome phenotype.
Dravet C
Epilepsia 2011 Apr;52 Suppl 2:3-9. doi: 10.1111/j.1528-1167.2011.02994.x. PMID: 21463272
Benign myoclonic epilepsy in infancy.
Dravet C, Bureau M
Adv Neurol 2005;95:127-37. PMID: 15508918

Clinical prediction guides

Deconstructing Dravet syndrome neurocognitive development: A scoping review.
Bertuccelli M, Verheyen K, Hallemans A, Sander JW, Ragona F, Bisiacchi P, Masiero S, Del Felice A
Epilepsia 2021 Apr;62(4):874-887. Epub 2021 Mar 1 doi: 10.1111/epi.16844. PMID: 33646591
The core Dravet syndrome phenotype.
Dravet C
Epilepsia 2011 Apr;52 Suppl 2:3-9. doi: 10.1111/j.1528-1167.2011.02994.x. PMID: 21463272
Clinical spectrum of SCN1A mutations.
Gambardella A, Marini C
Epilepsia 2009 May;50 Suppl 5:20-3. doi: 10.1111/j.1528-1167.2009.02115.x. PMID: 19469841
Molecular basis of severe myoclonic epilepsy in infancy.
Yamakawa K
Brain Dev 2009 May;31(5):401-4. Epub 2009 Feb 8 doi: 10.1016/j.braindev.2008.11.015. PMID: 19203854
Fever, genes, and epilepsy.
Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, Baulac M
Lancet Neurol 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. PMID: 15207799

Recent systematic reviews

Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
Rampazzo ACM, Dos Santos RRP, Maluf FA, Simm RF, Marson FAL, Ortega MM, de Aguiar PHP
Neurogenetics 2021 May;22(2):105-115. Epub 2021 May 3 doi: 10.1007/s10048-021-00644-7. PMID: 33937968
Antiepileptic drugs for the treatment of severe myoclonic epilepsy in infancy.
Brigo F, Storti M
Cochrane Database Syst Rev 2013 Nov 19;(11):CD010483. doi: 10.1002/14651858.CD010483.pub2. PMID: 24254932
Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data.
Kassaï B, Chiron C, Augier S, Cucherat M, Rey E, Gueyffier F, Guerrini R, Vincent J, Dulac O, Pons G
Epilepsia 2008 Feb;49(2):343-8. Epub 2007 Nov 19 doi: 10.1111/j.1528-1167.2007.01423.x. PMID: 18028411

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