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Epilepsy syndrome

MedGen UID:: 1371141
•Concept ID:: C4505072
•: Disease or Syndrome

Synonyms:	Epileptic syndromes; Syndromic epilepsy

Monarch Initiative:	MONDO:0015650
Orphanet:	ORPHA166463

Definition

EPILEPTIC SEIZURES that are of similar type and age of onset and have other similar features (e.g., clinical course, EEG findings, genetic association and neuropathology). [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Epilepsy syndrome

Disease
- Disorder by Site
  - Disorder of nervous system
    - Disorder of the central nervous system
      - Brain disorder
        Epilepsy
        Epilepsy syndrome
        Absence seizure
        Epilepsy, childhood absence 2
        Epilepsy, childhood absence 4
        Epilepsy, childhood absence, susceptibility to, 1
        Epilepsy, childhood absence, susceptibility to, 5
        Epilepsy, childhood absence, susceptibility to, 6
        Action myoclonus-renal failure syndrome
        Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
        Childhood epilepsy with centrotemporal spikes
        Benign Rolandic epilepsy
        Landau-Kleffner syndrome
        Cortical dysplasia-focal epilepsy syndrome
        DEND syndrome
        Developmental and epileptic encephalopathy, 4
        Epilepsy-telangiectasia syndrome
        Frontal lobe epilepsy
        Infantile spasms-broad thumbs syndrome
        Intermediate DEND syndrome
        Lennox-Gastaut syndrome
        Moynahan syndrome
        myoclonic epilepsy
        Juvenile myoclonic epilepsy
        Epilepsy, idiopathic generalized, susceptibility to, 7
        Epilepsy, idiopathic generalized, susceptibility to, 9
        Epilepsy, idiopathic generalized, susceptibility to, 11
        Epilepsy, idiopathic generalized, susceptibility to, 13
        Epilepsy, juvenile myoclonic 7
        Epilepsy, juvenile myoclonic, susceptibility to, 6
        EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
        Juvenile Myoclonic Epilepsy, Intractable, without Status Epilepticus
        Myoclonic epilepsy, juvenile, susceptibility to, 1
        Myoclonic epilepsy, juvenile, susceptibility to, 3
        Myoclonic epilepsy, juvenile, susceptibility to, 4
        Progressive myoclonic epilepsy
        Adult neuronal ceroid lipofuscinosis
        Congenital neuronal ceroid lipofuscinosis
        Early-onset Lafora body disease
        Epilepsy, progressive myoclonic, 1B
        Familial encephalopathy with neuroserpin inclusion bodies
        Infantile neuronal ceroid lipofuscinosis
        Juvenile neuronal ceroid lipofuscinosis
        Lafora disease
        Late-infantile neuronal ceroid lipofuscinosis
        MERRF syndrome
        Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
        Progressive myoclonic epilepsy type 5
        Progressive myoclonic epilepsy type 6
        Progressive myoclonic epilepsy type 7
        Progressive myoclonic epilepsy type 8
        Progressive myoclonic epilepsy type 9
        Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
        Unverricht-Lundborg syndrome
        Oculocerebrocutaneous syndrome
        Pallister-W syndrome
        PEHO syndrome
        PEHO-like syndrome
        Temporal lobe epilepsy
        Epilepsy, familial temporal lobe, 1
        West syndrome

Professional guidelines

PubMed

Epilepsy: Epileptic Syndromes and Treatment.

Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386

A Practical Guide to Treatment of Childhood Absence Epilepsy.

Kessler SK, McGinnis E
Paediatr Drugs 2019 Feb;21(1):15-24. doi: 10.1007/s40272-019-00325-x. PMID: 30734897 Free PMC Article

The management of epilepsy in children and adults.

Perucca P, Scheffer IE, Kiley M
Med J Aust 2018 Mar 19;208(5):226-233. doi: 10.5694/mja17.00951. PMID: 29540143

See all (98)

Recent clinical studies

Etiology

Drug resistance in epilepsy.

Perucca E, Perucca P, White HS, Wirrell EC
Lancet Neurol 2023 Aug;22(8):723-734. Epub 2023 Jun 20 doi: 10.1016/S1474-4422(23)00151-5. PMID: 37352888

Antiseizure Medications for Adults With Epilepsy: A Review.

Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.

Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E, Jain S, Mathern GW, Moshé SL, Nordli DR, Perucca E, Tomson T, Wiebe S, Zhang YH, Zuberi SM
Epilepsia 2017 Apr;58(4):512-521. Epub 2017 Mar 8 doi: 10.1111/epi.13709. PMID: 28276062 Free PMC Article

ILAE official report: a practical clinical definition of epilepsy.

Fisher RS, Acevedo C, Arzimanoglou A, Bogacz A, Cross JH, Elger CE, Engel J Jr, Forsgren L, French JA, Glynn M, Hesdorffer DC, Lee BI, Mathern GW, Moshé SL, Perucca E, Scheffer IE, Tomson T, Watanabe M, Wiebe S
Epilepsia 2014 Apr;55(4):475-82. Epub 2014 Apr 14 doi: 10.1111/epi.12550. PMID: 24730690

Epilepsy.

Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266

See all (566)

Diagnosis

Drug resistance in epilepsy.

Perucca E, Perucca P, White HS, Wirrell EC
Lancet Neurol 2023 Aug;22(8):723-734. Epub 2023 Jun 20 doi: 10.1016/S1474-4422(23)00151-5. PMID: 37352888

Antiseizure Medications for Adults With Epilepsy: A Review.

Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580

Epilepsy: Epileptic Syndromes and Treatment.

Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386

Epilepsy Overview and Revised Classification of Seizures and Epilepsies.

Pack AM
Continuum (Minneap Minn) 2019 Apr;25(2):306-321. doi: 10.1212/CON.0000000000000707. PMID: 30921011

ILAE official report: a practical clinical definition of epilepsy.

See all (649)

Therapy

Drug resistance in epilepsy.

Perucca E, Perucca P, White HS, Wirrell EC
Lancet Neurol 2023 Aug;22(8):723-734. Epub 2023 Jun 20 doi: 10.1016/S1474-4422(23)00151-5. PMID: 37352888

Antiseizure Medications for Adults With Epilepsy: A Review.

Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580

Dravet syndrome.

Lagae L
Curr Opin Neurol 2021 Apr 1;34(2):213-218. doi: 10.1097/WCO.0000000000000902. PMID: 33395108

Samanta D
Pediatr Neurol 2020 Apr;105:3-9. Epub 2019 Nov 30 doi: 10.1016/j.pediatrneurol.2019.10.009. PMID: 32057594

The management of epilepsy in children and adults.

Perucca P, Scheffer IE, Kiley M
Med J Aust 2018 Mar 19;208(5):226-233. doi: 10.5694/mja17.00951. PMID: 29540143

See all (396)

Prognosis

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.

Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S, Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S
Epilepsia 2022 Jun;63(6):1398-1442. Epub 2022 May 3 doi: 10.1111/epi.17241. PMID: 35503717

Evaluation of First Seizure and Newly Diagnosed Epilepsy.

Wirrell E
Continuum (Minneap Minn) 2022 Apr 1;28(2):230-260. doi: 10.1212/CON.0000000000001074. PMID: 35393959

Epilepsy: Epileptic Syndromes and Treatment.

Katyayan A, Diaz-Medina G
Neurol Clin 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. PMID: 34215386

Dravet syndrome.

Lagae L
Curr Opin Neurol 2021 Apr 1;34(2):213-218. doi: 10.1097/WCO.0000000000000902. PMID: 33395108

New onset refractory status epilepticus (NORSE).

Sculier C, Gaspard N
Seizure 2019 May;68:72-78. Epub 2018 Sep 29 doi: 10.1016/j.seizure.2018.09.018. PMID: 30482654

See all (386)

Clinical prediction guides

Developmental and epileptic encephalopathies.

Scheffer IE, Zuberi S, Mefford HC, Guerrini R, McTague A
Nat Rev Dis Primers 2024 Sep 5;10(1):61. doi: 10.1038/s41572-024-00546-6. PMID: 39237642

Status epilepticus: what's new for the intensivist.

Benghanem S, Pruvost-Robieux E, Neligan A, Walker MC
Curr Opin Crit Care 2024 Apr 1;30(2):131-141. Epub 2024 Feb 13 doi: 10.1097/MCC.0000000000001137. PMID: 38441162

Antiseizure Medications for Adults With Epilepsy: A Review.

Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.

Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I, Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A, MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian H, Knight JC, Zuberi SM
Brain 2021 Oct 22;144(9):2879-2891. doi: 10.1093/brain/awab162. PMID: 34687210 Free PMC Article

Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.

Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337

See all (349)

Recent systematic reviews

Drug-resistant idiopathic generalized epilepsy: A meta-analysis of prevalence and risk factors.

Jiang T, Zhang X, Zhang M, Liu M, Zhu H, Sun Y
Epilepsy Behav 2023 Sep;146:109364. Epub 2023 Jul 29 doi: 10.1016/j.yebeh.2023.109364. PMID: 37523796

The genetic landscape of developmental and epileptic encephalopathy with spike-and-wave activation in sleep.

Freibauer AE, RamachandranNair R, Jain P, Jones KC, Whitney R
Seizure 2023 Aug;110:119-125. Epub 2023 Jun 20 doi: 10.1016/j.seizure.2023.06.017. PMID: 37352690

Clinical efficacy and safety of cannabidiol for pediatric refractory epilepsy indications: A systematic review and meta-analysis.

Talwar A, Estes E, Aparasu R, Reddy DS
Exp Neurol 2023 Jan;359:114238. Epub 2022 Oct 4 doi: 10.1016/j.expneurol.2022.114238. PMID: 36206805

Unraveling the enigma of new-onset refractory status epilepticus: a systematic review of aetiologies.

Lattanzi S, Leitinger M, Rocchi C, Salvemini S, Matricardi S, Brigo F, Meletti S, Trinka E
Eur J Neurol 2022 Feb;29(2):626-647. Epub 2021 Nov 2 doi: 10.1111/ene.15149. PMID: 34661330 Free PMC Article

See all (20)

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Epilepsy syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

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