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Epilepsy, familial adult myoclonic, 6(FAME6; BAFME6; FCMTE6)

MedGen UID:
1648448
•Concept ID:
C4748079
•
Disease or Syndrome
Synonyms: BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 6; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 6
 
Gene (location): TNRC6A (16p12.1)
 
Monarch Initiative: MONDO:0054846
OMIM®: 618074

Clinical features

From HPO
Myoclonic tremor
MedGen UID:
1739193
•Concept ID:
C5421572
•
Disease or Syndrome
A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.
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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
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM, Weissensteiner T, Pereira C, Susnea I, Danquah BD, Morales Torres G, Rocha ME, Cozma C, Saravanakumar D, Mannepalli S, Kandaswamy KK, Di Bucchianico S, Zimmermann R, Rolfs A, Bauer P, Beetz C
Orphanet J Rare Dis 2022 May 3;17(1):179. doi: 10.1186/s13023-022-02288-8. PMID: 35505348Free PMC Article
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

Recent clinical studies

Etiology

Impact of the COVID-19 lockdown on patients and families with Dravet syndrome.
Brambilla I, Aibar JÁ, Hallet AS, Bibic I, Cardenal-Muñoz E, Prpic I, Darra F, Specchio N, Nabbout R
Epilepsia Open 2021 Mar;6(1):216-224. Epub 2021 Jan 25 doi: 10.1002/epi4.12464. PMID: 33681664Free 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
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
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
Primary progressive myoclonus of aging.
Alvarez M, Caviness JN
Mov Disord 2008 Sep 15;23(12):1658-64. doi: 10.1002/mds.22085. PMID: 18709679

Diagnosis

Myoclonic status epilepticus induced by cefepime overdose requiring haemodialysis.
Garin A, Bavozet F
BMJ Case Rep 2019 Jun 6;12(6) doi: 10.1136/bcr-2018-228108. PMID: 31175111Free PMC Article
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.
Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, Tanaka H, Minami N, Goto Y
J Neurol 2012 Nov;259(11):2329-34. Epub 2012 Apr 18 doi: 10.1007/s00415-012-6493-7. PMID: 22527233
Primary progressive myoclonus of aging.
Alvarez M, Caviness JN
Mov Disord 2008 Sep 15;23(12):1658-64. doi: 10.1002/mds.22085. PMID: 18709679
Management of epilepsy in adults. Diagnosis guidelines.
Trost LF 3rd, Wender RC, Suter CC, Rosenberg JH, Brixner DI, Von Worley AM, Gunter MJ; National Epilepsy Management Panel
Postgrad Med 2005 Dec;118(6):22-6. PMID: 16382762
Benign juvenile myoclonic epilepsy.
Dean C, Hauswald M
Am J Emerg Med 1987 Nov;5(6):496-8. doi: 10.1016/0735-6757(87)90169-0. PMID: 3117071

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
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
Stiripentol protects against calcium oxalate nephrolithiasis and ethylene glycol poisoning.
Le Dudal M, Huguet L, Perez J, Vandermeersch S, Bouderlique E, Tang E, Martori C, Chemaly N, Nabbout R, Haymann JP, Frochot V, Baud L, Deschênes G, Daudon M, Letavernier E
J Clin Invest 2019 Apr 4;129(6):2571-2577. doi: 10.1172/JCI99822. PMID: 30946030Free 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
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial.
Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR
Lancet Neurol 2016 Mar;15(3):270-8. Epub 2015 Dec 24 doi: 10.1016/S1474-4422(15)00379-8. PMID: 26724101

Prognosis

Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome.
Cheah CS, Westenbroek RE, Roden WH, Kalume F, Oakley JC, Jansen LA, Catterall WA
Channels (Austin) 2013 Nov-Dec;7(6):468-72. Epub 2013 Aug 21 doi: 10.4161/chan.26023. PMID: 23965409Free PMC Article
Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy.
Maruyama S, Saito Y, Nakagawa E, Saito T, Komaki H, Sugai K, Sasaki M, Kumada S, Saito Y, Tanaka H, Minami N, Goto Y
J Neurol 2012 Nov;259(11):2329-34. Epub 2012 Apr 18 doi: 10.1007/s00415-012-6493-7. PMID: 22527233
Add-on therapy with topiramate in progressive myoclonic epilepsy.
Aykutlu E, Baykan B, Gürses C, Bebek N, Büyükbabani N, Gökyigit A
Epilepsy Behav 2005 Mar;6(2):260-3. doi: 10.1016/j.yebeh.2004.11.014. PMID: 15710314
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
Clozapine-related seizures: experience with 5,629 patients.
Pacia SV, Devinsky O
Neurology 1994 Dec;44(12):2247-9. doi: 10.1212/wnl.44.12.2247. PMID: 7991106

Clinical prediction guides

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.
Poffenberger CN, Inati S, Tayebi N, Stubblefield BK, Ryan E, Schiffmann R, Sidransky E, Lopez G
Mol Genet Metab 2020 Nov;131(3):358-363. Epub 2020 Oct 20 doi: 10.1016/j.ymgme.2020.10.010. PMID: 33183916Free 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
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis.
Ferlazzo E, Striano P, Italiano D, Calarese T, Gasparini S, Vanni N, Fruscione F, Genton P, Zara F
Epileptic Disord 2016 Sep 1;18(S2):120-127. doi: 10.1684/epd.2016.0857. PMID: 27618929
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
Valproate as monotherapy for juvenile myoclonic epilepsy: dose-effect study.
Sundqvist A, Tomson T, Lundkvist B
Ther Drug Monit 1998 Apr;20(2):149-57. doi: 10.1097/00007691-199804000-00004. PMID: 9558128

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
Dravet syndrome: Effects on informal caregivers' mental health and quality of life - A systematic review.
Gonçalves C, Martins S, Fernandes L
Epilepsy Behav 2021 Sep;122:108206. Epub 2021 Jul 16 doi: 10.1016/j.yebeh.2021.108206. PMID: 34280725
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
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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