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Epilepsy, familial adult myoclonic, 5(EPEO5)

MedGen UID:
815704
•Concept ID:
C3809374
•
Disease or Syndrome
Synonyms: CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 5; EPEO5
 
Gene (location): CNTN2 (1q32.1)
 
Monarch Initiative: MONDO:0014167
OMIM®: 615400

Definition

Early-onset epilepsy-5 with or without developmental delay (EPEO5) is an autosomal recessive neurologic disorder characterized by the onset of various types of seizures late in the first decade or during adolescence. Focal seizures are common. Most affected individuals have developmental delay, variable impaired intellectual development, and/or behavioral and neuropsychiatric abnormalities (Stogmann et al., 2013; Abdulkareem et al., 2023). For a discussion of genetic heterogeneity of EPEO, see 617290. [from OMIM]

Clinical features

From HPO
Myoclonus
MedGen UID:
10234
•Concept ID:
C0027066
•
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
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Tremor
MedGen UID:
21635
•Concept ID:
C0040822
•
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
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Focal impaired awareness seizure
MedGen UID:
543022
•Concept ID:
C0270834
•
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
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Focal sensory seizure with visual features
MedGen UID:
75815
•Concept ID:
C0278188
•
Disease or Syndrome
A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.
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Bilateral tonic-clonic seizure
MedGen UID:
141670
•Concept ID:
C0494475
•
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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Hippocampal sclerosis
MedGen UID:
1778719
•Concept ID:
C1504404
•
Disease or Syndrome
Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.
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Interictal epileptiform activity
MedGen UID:
869073
•Concept ID:
C4023491
•
Finding
Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.
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Professional guidelines

PubMed

Efficacy and safety of six new antiseizure medications for adjunctive treatment of focal epilepsy and epileptic syndrome: A systematic review and network meta-analysis.
Tong J, Ji T, Liu T, Liu J, Chen Y, Li Z, Lu N, Li Q
Epilepsy Behav 2024 Mar;152:109653. Epub 2024 Jan 25 doi: 10.1016/j.yebeh.2024.109653. PMID: 38277848
Real-world evidence on the use of cannabidiol for the treatment of drug resistant epilepsy not related to Lennox-Gastaut syndrome, Dravet syndrome or Tuberous Sclerosis Complex.
Espinosa-Jovel C, Riveros S, Bolaños-Almeida C, Salazar MR, Inga LC, Guío L
Seizure 2023 Nov;112:72-76. Epub 2023 Sep 17 doi: 10.1016/j.seizure.2023.09.015. PMID: 37769547
Ascertaining the epidemiology, patient flow and disease management for Dravet syndrome in Spain.
Gil-Nagel A, Sanchez-Carpintero R, San Antonio V, Mistry A, Barker G, Shepherd J, Gil A
Rev Neurol 2019 Jan 16;68(2):75-81. PMID: 30638257

Recent clinical studies

Etiology

Surround inhibition in patients with juvenile myoclonic epilepsy.
Turk BG, Yeni N, Gunduz A, Alis C, Kiziltan M
Neurol Res 2021 May;43(5):343-348. Epub 2020 Dec 31 doi: 10.1080/01616412.2020.1866248. PMID: 33382016
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.
Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group
N Engl J Med 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618. PMID: 28538134
Mortality in Dravet syndrome.
Cooper MS, Mcintosh A, Crompton DE, McMahon JM, Schneider A, Farrell K, Ganesan V, Gill D, Kivity S, Lerman-Sagie T, McLellan A, Pelekanos J, Ramesh V, Sadleir L, Wirrell E, Scheffer IE
Epilepsy Res 2016 Dec;128:43-47. Epub 2016 Oct 26 doi: 10.1016/j.eplepsyres.2016.10.006. PMID: 27810515
Long-term evolution of EEG in Unverricht-Lundborg disease.
Gargouri-Berrechid A, Nasri A, Kacem I, Sidhom Y, Abdelkefi I, Hizem Y, Ben Djebrara M, Gouider R
Neurophysiol Clin 2016 Apr;46(2):119-24. Epub 2016 May 4 doi: 10.1016/j.neucli.2016.03.003. PMID: 27157382
Ictal ontogeny in Dravet syndrome.
Kim SH, Nordli DR Jr, Berg AT, Koh S, Laux L
Clin Neurophysiol 2015 Mar;126(3):446-55. Epub 2014 Jun 30 doi: 10.1016/j.clinph.2014.06.024. PMID: 25046982

Diagnosis

Early-onset eyelid stereotypies are a frequent and distinctive feature in Dravet syndrome.
Sala-Coromina J, Raspall-Chaure M, Marcé-Grau A, de la Ossa AM, Macaya A
Seizure 2021 Nov;92:155-157. Epub 2021 Sep 7 doi: 10.1016/j.seizure.2021.08.020. PMID: 34521063
Photoparoxysmal response and its characteristics in a large EEG database using the SCORE system.
Meritam Larsen P, Wüstenhagen S, Terney D, Gardella E, Alving J, Aurlien H, Beniczky S
Clin Neurophysiol 2021 Feb;132(2):365-371. Epub 2021 Jan 12 doi: 10.1016/j.clinph.2020.10.029. PMID: 33450559
Long-term evolution of EEG in Unverricht-Lundborg disease.
Gargouri-Berrechid A, Nasri A, Kacem I, Sidhom Y, Abdelkefi I, Hizem Y, Ben Djebrara M, Gouider R
Neurophysiol Clin 2016 Apr;46(2):119-24. Epub 2016 May 4 doi: 10.1016/j.neucli.2016.03.003. PMID: 27157382
Inherited epilepsies.
Walsh LE, McCandless D
Semin Pediatr Neurol 2001 Sep;8(3):165-76. doi: 10.1053/spen.2001.26450. PMID: 11575846
Clinical features and genetics of progressive myoclonus epilepsy of the Univerricht-Lundborg type.
Lehesjoki AE, Koskiniemi M
Ann Med 1998 Oct;30(5):474-80. doi: 10.3109/07853899809002489. PMID: 9814834

Therapy

Effect of fenfluramine on convulsive seizures in CDKL5 deficiency disorder.
Devinsky O, King L, Schwartz D, Conway E, Price D
Epilepsia 2021 Jul;62(7):e98-e102. Epub 2021 May 12 doi: 10.1111/epi.16923. PMID: 33979451Free PMC Article
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.
Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group
N Engl J Med 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618. PMID: 28538134
Zonisamide concentrations during pregnancy.
Oles KS, Bell WL
Ann Pharmacother 2008 Jul;42(7):1139-41. Epub 2008 Jun 24 doi: 10.1345/aph.1L052. PMID: 18577760
Clonazepam in juvenile myoclonic epilepsy.
Obeid T, Panayiotopoulos CP
Epilepsia 1989 Sep-Oct;30(5):603-6. doi: 10.1111/j.1528-1157.1989.tb05479.x. PMID: 2507306
Photic cortical reflex myoclonus.
Shibasaki H, Neshige R
Ann Neurol 1987 Aug;22(2):252-7. doi: 10.1002/ana.410220210. PMID: 3116913

Prognosis

Mortality in Dravet syndrome.
Cooper MS, Mcintosh A, Crompton DE, McMahon JM, Schneider A, Farrell K, Ganesan V, Gill D, Kivity S, Lerman-Sagie T, McLellan A, Pelekanos J, Ramesh V, Sadleir L, Wirrell E, Scheffer IE
Epilepsy Res 2016 Dec;128:43-47. Epub 2016 Oct 26 doi: 10.1016/j.eplepsyres.2016.10.006. PMID: 27810515
Progressive myoclonic epilepsies: definitive and still undetermined causes.
Franceschetti S, Michelucci R, Canafoglia L, Striano P, Gambardella A, Magaudda A, Tinuper P, La Neve A, Ferlazzo E, Gobbi G, Giallonardo AT, Capovilla G, Visani E, Panzica F, Avanzini G, Tassinari CA, Bianchi A, Zara F; Collaborative LICE study group on PMEs
Neurology 2014 Feb 4;82(5):405-11. Epub 2014 Jan 2 doi: 10.1212/WNL.0000000000000077. PMID: 24384641Free PMC Article
Prognosis following Postanoxic Myoclonus Status epilepticus.
Hui AC, Cheng C, Lam A, Mok V, Joynt GM
Eur Neurol 2005;54(1):10-3. Epub 2005 Jul 5 doi: 10.1159/000086755. PMID: 16015015
Inherited epilepsies.
Walsh LE, McCandless D
Semin Pediatr Neurol 2001 Sep;8(3):165-76. doi: 10.1053/spen.2001.26450. PMID: 11575846
Clonazepam in juvenile myoclonic epilepsy.
Obeid T, Panayiotopoulos CP
Epilepsia 1989 Sep-Oct;30(5):603-6. doi: 10.1111/j.1528-1157.1989.tb05479.x. PMID: 2507306

Clinical prediction guides

Photoparoxysmal response and its characteristics in a large EEG database using the SCORE system.
Meritam Larsen P, Wüstenhagen S, Terney D, Gardella E, Alving J, Aurlien H, Beniczky S
Clin Neurophysiol 2021 Feb;132(2):365-371. Epub 2021 Jan 12 doi: 10.1016/j.clinph.2020.10.029. PMID: 33450559
Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial.
Lagae L, Sullivan J, Knupp K, Laux L, Polster T, Nikanorova M, Devinsky O, Cross JH, Guerrini R, Talwar D, Miller I, Farfel G, Galer BS, Gammaitoni A, Mistry A, Morrison G, Lock M, Agarwal A, Lai WW, Ceulemans B; FAiRE DS Study Group
Lancet 2019 Dec 21;394(10216):2243-2254. Epub 2019 Dec 17 doi: 10.1016/S0140-6736(19)32500-0. PMID: 31862249
Ictal ontogeny in Dravet syndrome.
Kim SH, Nordli DR Jr, Berg AT, Koh S, Laux L
Clin Neurophysiol 2015 Mar;126(3):446-55. Epub 2014 Jun 30 doi: 10.1016/j.clinph.2014.06.024. PMID: 25046982
Prognosis following Postanoxic Myoclonus Status epilepticus.
Hui AC, Cheng C, Lam A, Mok V, Joynt GM
Eur Neurol 2005;54(1):10-3. Epub 2005 Jul 5 doi: 10.1159/000086755. PMID: 16015015
Somatosensory evoked potentials in juvenile myoclonic epilepsy.
Salas-Puig J, Tuñon A, Diaz M, Lahoz CH
Epilepsia 1992 May-Jun;33(3):527-30. doi: 10.1111/j.1528-1157.1992.tb01704.x. PMID: 1592032

Recent systematic reviews

Efficacy and safety of six new antiseizure medications for adjunctive treatment of focal epilepsy and epileptic syndrome: A systematic review and network meta-analysis.
Tong J, Ji T, Liu T, Liu J, Chen Y, Li Z, Lu N, Li Q
Epilepsy Behav 2024 Mar;152:109653. Epub 2024 Jan 25 doi: 10.1016/j.yebeh.2024.109653. PMID: 38277848
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P
Epilepsia 2024 Mar;65(3):709-724. Epub 2024 Jan 17 doi: 10.1111/epi.17880. PMID: 38231304
Pharmacotherapy for Dravet Syndrome: A Systematic Review and Network Meta-Analysis of Randomized Controlled Trials.
Lattanzi S, Trinka E, Russo E, Del Giovane C, Matricardi S, Meletti S, Striano P, Damavandi PT, Silvestrini M, Brigo F
Drugs 2023 Oct;83(15):1409-1424. Epub 2023 Sep 11 doi: 10.1007/s40265-023-01936-y. PMID: 37695433Free PMC Article
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
Efficacy and Safety of Cannabidiol in Epilepsy: A Systematic Review and Meta-Analysis.
Lattanzi S, Brigo F, Trinka E, Zaccara G, Cagnetti C, Del Giovane C, Silvestrini M
Drugs 2018 Nov;78(17):1791-1804. doi: 10.1007/s40265-018-0992-5. PMID: 30390221

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