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Epilepsy, juvenile myoclonic 8(EJM8)

MedGen UID:
416408
Concept ID:
C2750894
Finding
Synonyms: EJM8; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
 
OMIM®: 600570; 607628

Professional guidelines

PubMed

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
Montoya Gutiérrez FJ, Díaz Román M, Cerveró Albert D
Epilepsy Res 2020 Sep;165:106378. Epub 2020 May 31 doi: 10.1016/j.eplepsyres.2020.106378. PMID: 32622260
Welty TE
Paediatr Drugs 2006;8(5):303-10. doi: 10.2165/00148581-200608050-00003. PMID: 17037947

Recent clinical studies

Etiology

Asadi-Pooya AA, Rostamihosseinkhani M, Farazdaghi M
Seizure 2022 Apr;97:15-19. Epub 2022 Mar 3 doi: 10.1016/j.seizure.2022.03.002. PMID: 35259640
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK
Sci Rep 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. PMID: 35190554Free 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
Giuliano L, Mainieri G, Aguglia U, Bilo L, Durante V, Ermio C, Galimberti CA, La Neve A, Monti G, Ranzato F, Zambrelli E, Mostacci B
Seizure 2021 Mar;86:41-48. Epub 2021 Jan 23 doi: 10.1016/j.seizure.2021.01.005. PMID: 33524768
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

Diagnosis

Asadi-Pooya AA, Rostamihosseinkhani M, Farazdaghi M
Seizure 2022 Apr;97:15-19. Epub 2022 Mar 3 doi: 10.1016/j.seizure.2022.03.002. PMID: 35259640
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
Giuliano L, Mainieri G, Aguglia U, Bilo L, Durante V, Ermio C, Galimberti CA, La Neve A, Monti G, Ranzato F, Zambrelli E, Mostacci B
Seizure 2021 Mar;86:41-48. Epub 2021 Jan 23 doi: 10.1016/j.seizure.2021.01.005. PMID: 33524768
Assenza G, Lanzone J, Dubbioso R, Coppola A, Boscarino M, Ricci L, Insola A, Bilo L, Tombini M, Di Lazzaro V
Clin Neurophysiol 2020 Aug;131(8):2041-2046. Epub 2020 May 22 doi: 10.1016/j.clinph.2020.04.164. PMID: 32487476
Welty TE
Paediatr Drugs 2006;8(5):303-10. doi: 10.2165/00148581-200608050-00003. PMID: 17037947

Therapy

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
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
Uchida CGP, de Carvalho KC, Guaranha MSB, Guilhoto LMFF, de Araújo Filho GM, Yacubian EMT
Seizure 2018 Nov;62:17-25. Epub 2018 Sep 17 doi: 10.1016/j.seizure.2018.09.006. PMID: 30248569
Kasteleijn-Nolst Trenité DG, de Weerd A, Beniczky S
Epilepsy Behav 2013 Jul;28 Suppl 1:S25-9. doi: 10.1016/j.yebeh.2012.11.045. PMID: 23756476
Welty TE
Paediatr Drugs 2006;8(5):303-10. doi: 10.2165/00148581-200608050-00003. PMID: 17037947

Prognosis

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
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK
Sci Rep 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. PMID: 35190554Free 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
Giuliano L, Mainieri G, Aguglia U, Bilo L, Durante V, Ermio C, Galimberti CA, La Neve A, Monti G, Ranzato F, Zambrelli E, Mostacci B
Seizure 2021 Mar;86:41-48. Epub 2021 Jan 23 doi: 10.1016/j.seizure.2021.01.005. PMID: 33524768
Uchida CGP, de Carvalho KC, Guaranha MSB, Guilhoto LMFF, de Araújo Filho GM, Yacubian EMT
Seizure 2018 Nov;62:17-25. Epub 2018 Sep 17 doi: 10.1016/j.seizure.2018.09.006. PMID: 30248569

Clinical prediction guides

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
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK
Sci Rep 2022 Feb 21;12(1):2785. doi: 10.1038/s41598-022-06324-2. PMID: 35190554Free PMC Article
Giuliano L, Mainieri G, Aguglia U, Bilo L, Durante V, Ermio C, Galimberti CA, La Neve A, Monti G, Ranzato F, Zambrelli E, Mostacci B
Seizure 2021 Mar;86:41-48. Epub 2021 Jan 23 doi: 10.1016/j.seizure.2021.01.005. PMID: 33524768
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
Rzezak P, Moschetta SP, Mendonça M, Paiva MLMN, Coan AC, Guerreiro C, Valente KDR
Epilepsy Behav 2018 Sep;86:124-130. Epub 2018 Jul 14 doi: 10.1016/j.yebeh.2018.05.029. PMID: 30017836

Recent systematic reviews

Trinka E, Lattanzi S, Carpenter K, Corradetti T, Nucera B, Rinaldi F, Shankar R, Brigo F
CNS Drugs 2021 Aug;35(8):821-837. Epub 2021 Jul 7 doi: 10.1007/s40263-021-00831-y. PMID: 34232492Free PMC Article
Giuliano L, Mainieri G, Aguglia U, Bilo L, Durante V, Ermio C, Galimberti CA, La Neve A, Monti G, Ranzato F, Zambrelli E, Mostacci B
Seizure 2021 Mar;86:41-48. Epub 2021 Jan 23 doi: 10.1016/j.seizure.2021.01.005. PMID: 33524768

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