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Epilepsy, familial adult myoclonic, 7(FCMTE7; FAME7; BAFME7)

MedGen UID:
1648435
Concept ID:
C4748080
Disease or Syndrome
Synonyms: BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7; CORTICAL MYOCLONIC TREMOR WITH EPILEPSY, FAMILIAL, 7
 
Gene (location): RAPGEF2 (4q32.1)
 
Monarch Initiative: MONDO:0054847
OMIM®: 618075

Clinical features

From HPO
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.
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.

Professional guidelines

PubMed

Strzelczyk A, Schubert-Bast S
CNS Drugs 2022 Mar;36(3):217-237. Epub 2022 Feb 14 doi: 10.1007/s40263-022-00898-1. PMID: 35156171Free PMC Article
Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar JÁ
Epilepsia Open 2022 Mar;7(1):11-26. Epub 2021 Dec 19 doi: 10.1002/epi4.12569. PMID: 34882995Free PMC Article
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM
Neurology 2016 Jul 5;87(1):77-85. Epub 2016 Jun 8 doi: 10.1212/WNL.0000000000002807. PMID: 27281533Free PMC Article

Recent clinical studies

Etiology

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
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
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
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM
Neurology 2016 Jul 5;87(1):77-85. Epub 2016 Jun 8 doi: 10.1212/WNL.0000000000002807. PMID: 27281533Free PMC Article
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

Diagnosis

Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar JÁ
Epilepsia Open 2022 Mar;7(1):11-26. Epub 2021 Dec 19 doi: 10.1002/epi4.12569. PMID: 34882995Free PMC Article
Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V
Epilepsia 2021 Jul;62(7):e103-e109. Epub 2021 May 26 doi: 10.1111/epi.16931. PMID: 34041744Free PMC Article
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM
Neurology 2016 Jul 5;87(1):77-85. Epub 2016 Jun 8 doi: 10.1212/WNL.0000000000002807. PMID: 27281533Free PMC Article
Espay AJ, Chen R
Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1264-86. doi: 10.1212/01.CON.0000436156.54532.1a. PMID: 24092290
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

Therapy

Strzelczyk A, Schubert-Bast S
CNS Drugs 2022 Mar;36(3):217-237. Epub 2022 Feb 14 doi: 10.1007/s40263-022-00898-1. PMID: 35156171Free PMC Article
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
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
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
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

Ding Y, Cen Z, Zheng Y, Qiu X, Ye Y, Chen X, Hu L, Wang B, Wang Z, Yin H, Shen C, Ming W, Ge Y, Xie F, Yang D, Ouyang Z, Wang H, Wu S, Ding M, Wang S, Luo W
Ann Clin Transl Neurol 2024 Feb;11(2):414-423. Epub 2023 Dec 7 doi: 10.1002/acn3.51961. PMID: 38059543Free PMC Article
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
Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A
J Hum Genet 2011 Oct;56(10):742-7. Epub 2011 Aug 18 doi: 10.1038/jhg.2011.93. PMID: 21850007
Kleveland G, Engelsen BA
Seizure 1998 Feb;7(1):31-8. doi: 10.1016/s1059-1311(98)90005-x. PMID: 9548223
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

Clinical prediction guides

Trinka E, Alsaadi T, Goji H, Maehara T, Takahashi S, Jacobs J, Renna R, Gil-López FJ, McMurray R, Sáinz-Fuertes R, Villanueva V
Epilepsia 2023 Aug;64(8):2094-2107. Epub 2023 Jun 4 doi: 10.1111/epi.17631. PMID: 37114853
Balestrini S, Doccini V, Giometto S, Lucenteforte E, De Masi S, Giarola E, Brambilla I, Pieroni F, Perulli M, Battaglia D, Specchio N, Ragona F, Granata T, Pellacani S, Ferrari A, Marini C, Matricardi S, Cesaroni E, Giordano L, Accorsi P, Sciruicchio V, Tinuper P, Messana T, Russo A, Pruna D, Nosadini M, De Giorgis V, Caputo D; Residras Collaboration Group, Pellegrin S, Lo Barco T, Darra F, Dalla Bernardina B, Guerrini R
Epilepsia Open 2023 Jun;8(2):517-534. Epub 2023 Mar 30 doi: 10.1002/epi4.12730. PMID: 36938796Free PMC Article
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
Balestrini S, Milh M, Castiglioni C, Lüthy K, Finelli MJ, Verstreken P, Cardon A, Stražišar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Félix TM, Giuliano F, Hori M, Hüning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, Rosenfeld JA, Taylor JC, Troester MM, Stanley CM, Ville D, Walkiewicz M, Falace A, Fassio A, Lemke JR, Biskup S, Tardif J, Ajeawung NF, Tolun A, Corbett M, Gecz J, Afawi Z, Howell KB, Oliver KL, Berkovic SF, Scheffer IE, de Falco FA, Oliver PL, Striano P, Zara F, Campeau PM, Sisodiya SM
Neurology 2016 Jul 5;87(1):77-85. Epub 2016 Jun 8 doi: 10.1212/WNL.0000000000002807. PMID: 27281533Free PMC Article
Porter RJ
Epilepsia 1993;34 Suppl 3:S42-8. doi: 10.1111/j.1528-1167.1993.tb06258.x. PMID: 8500432

Recent systematic reviews

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
Puteikis K, Mameniškienė R, Wolf P
Epilepsy Behav 2023 Aug;145:109346. Epub 2023 Jul 10 doi: 10.1016/j.yebeh.2023.109346. PMID: 37437391
Selvarajah A, Zulfiqar-Ali Q, Marques P, Rong M, Andrade DM
Seizure 2021 Apr;87:39-45. Epub 2021 Feb 22 doi: 10.1016/j.seizure.2021.02.025. PMID: 33677403
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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