U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Epilepsy, familial adult myoclonic, 4(FAME4; FCMTE4)

MedGen UID:
767474
•Concept ID:
C3554560
•
Disease or Syndrome
Synonyms: CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 4; FAME4
 
Gene (location): YEATS2 (3q27.1)
 
Monarch Initiative: MONDO:0014055
OMIM®: 615127

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.
See: Feature record | Search on this feature
Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
See: Feature record | Search on this feature
Tremor
MedGen UID:
21635
•Concept ID:
C0040822
•
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Enhancement of the C-reflex
MedGen UID:
765738
•Concept ID:
C3552824
•
Finding
Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.
See: Feature record | Search on this feature
Jerk-locked premyoclonus spikes
MedGen UID:
765739
•Concept ID:
C3552825
•
Finding
Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
EEG with polyspike wave complexes
MedGen UID:
867392
•Concept ID:
C4021757
•
Finding
The presence of complexes of repetitive spikes and waves in EEG.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):82-90. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005756. PMID: 29898974
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):74-81. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005755. PMID: 29898971
Treatment of pediatric epilepsy: European expert opinion, 2007.
Wheless JW, Clarke DF, Arzimanoglou A, Carpenter D
Epileptic Disord 2007 Dec;9(4):353-412. doi: 10.1684/epd.2007.0144. PMID: 18077226

Recent clinical studies

Etiology

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
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
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
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
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

Diagnosis

Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Potential role of brivaracetam in pediatric epilepsy.
Verrotti A, Grasso EA, Cacciatore M, Matricardi S, Striano P
Acta Neurol Scand 2021 Jan;143(1):19-26. Epub 2020 Oct 13 doi: 10.1111/ane.13347. PMID: 32966640
Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results.
Laux LC, Bebin EM, Checketts D, Chez M, Flamini R, Marsh ED, Miller I, Nichol K, Park Y, Segal E, Seltzer L, Szaflarski JP, Thiele EA, Weinstock A; CBD EAP study group
Epilepsy Res 2019 Aug;154:13-20. Epub 2019 Mar 25 doi: 10.1016/j.eplepsyres.2019.03.015. PMID: 31022635
Familial adult myoclonic epilepsy: A new expansion repeats disorder.
Lagorio I, Zara F, Striano S, Striano P
Seizure 2019 Apr;67:73-77. Epub 2019 Mar 19 doi: 10.1016/j.seizure.2019.03.009. PMID: 30928698
Epilepsy in children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Therapy

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
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
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs II: Treatment-resistant epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):82-90. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005756. PMID: 29898974
Practice guideline update summary: Efficacy and tolerability of the new antiepileptic drugs I: Treatment of new-onset epilepsy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Kanner AM, Ashman E, Gloss D, Harden C, Bourgeois B, Bautista JF, Abou-Khalil B, Burakgazi-Dalkilic E, Llanas Park E, Stern J, Hirtz D, Nespeca M, Gidal B, Faught E, French J
Neurology 2018 Jul 10;91(2):74-81. Epub 2018 Jun 13 doi: 10.1212/WNL.0000000000005755. PMID: 29898971
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

Prognosis

Development and Validation of MRI-Based Radiomics Models for Diagnosing Juvenile Myoclonic Epilepsy.
Kim KM, Hwang H, Sohn B, Park K, Han K, Ahn SS, Lee W, Chu MK, Heo K, Lee SK
Korean J Radiol 2022 Dec;23(12):1281-1289. doi: 10.3348/kjr.2022.0539. PMID: 36447416Free PMC Article
The molecular and phenotypic spectrum of CLCN4-related epilepsy.
He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T
Epilepsia 2021 Jun;62(6):1401-1415. Epub 2021 May 5 doi: 10.1111/epi.16906. PMID: 33951195
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors.
Pietrafusa N, La Neve A, de Palma L, Boero G, Luisi C, Vigevano F, Specchio N
Brain Dev 2021 Jun;43(6):688-697. Epub 2021 Mar 27 doi: 10.1016/j.braindev.2021.02.005. PMID: 33781581
Familial adult myoclonic epilepsy: A new expansion repeats disorder.
Lagorio I, Zara F, Striano S, Striano P
Seizure 2019 Apr;67:73-77. Epub 2019 Mar 19 doi: 10.1016/j.seizure.2019.03.009. PMID: 30928698
Epilepsy in children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Clinical prediction guides

Aberrant visual-related networks in familial cortical myoclonic tremor with epilepsy.
Wang H, Wang B, Cen Z, Wang J, Zang YF, Yang D, Ding Y, Wang S, Wu S, Luo W
Parkinsonism Relat Disord 2022 Aug;101:105-110. Epub 2022 Jul 19 doi: 10.1016/j.parkreldis.2022.07.001. PMID: 35870251
The molecular and phenotypic spectrum of CLCN4-related epilepsy.
He H, Guzman RE, Cao D, Sierra-Marquez J, Yin F, Fahlke C, Peng J, Stauber T
Epilepsia 2021 Jun;62(6):1401-1415. Epub 2021 May 5 doi: 10.1111/epi.16906. PMID: 33951195
Trait impulsivity in Juvenile Myoclonic Epilepsy.
Shakeshaft A, Panjwani N, McDowall R, Crudgington H, Peña Ceballos J, Andrade DM, Beier CP, Fong CY, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Orsini A, Rees MI, Rubboli G, Selmer KK, Smith AB, Striano P, Syvertsen M, Talvik I, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK; BIOJUME Consortium
Ann Clin Transl Neurol 2021 Jan;8(1):138-152. Epub 2020 Dec 2 doi: 10.1002/acn3.51255. PMID: 33264519Free PMC Article
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
Topiramate monotherapy for juvenile myoclonic epilepsy.
Liu J, Wang LN, Wang YP
Cochrane Database Syst Rev 2017 Apr 23;4(4):CD010008. doi: 10.1002/14651858.CD010008.pub3. PMID: 28434203Free PMC Article

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
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
Topiramate monotherapy for juvenile myoclonic epilepsy.
Liu J, Wang LN, Wang YP
Cochrane Database Syst Rev 2017 Apr 23;4(4):CD010008. doi: 10.1002/14651858.CD010008.pub3. PMID: 28434203Free PMC Article
A Systematic Review of Psychiatric and Psychosocial Comorbidities of Genetic Generalised Epilepsies (GGE).
Loughman A, Bendrups NA, D'Souza WJ
Neuropsychol Rev 2016 Dec;26(4):364-375. Epub 2016 Oct 10 doi: 10.1007/s11065-016-9333-1. PMID: 27726043

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...