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Familial partial epilepsy

MedGen UID:
1826100
Concept ID:
C5680862
Disease or Syndrome
Synonyms: epilepsy, partial, familial; familial partial epilepsy; hereditary partial epilepsy
 
Monarch Initiative: MONDO:0017704
Orphanet: ORPHA309

Definition

An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial partial epilepsy

Professional guidelines

PubMed

de Vries PJ, Heunis TM, Vanclooster S, Chambers N, Bissell S, Byars AW, Flinn J, Gipson TT, van Eeghen AM, Waltereit R, Capal JK, Cukier S, Davis PE, Smith C, Kingswood JC, Schoeters E, Srivastava S, Takei M, Gardner-Lubbe S, Kumm AJ, Krueger DA, Sahin M, De Waele L, Jansen AC
J Neurodev Disord 2023 Sep 14;15(1):32. doi: 10.1186/s11689-023-09500-1. PMID: 37710171Free PMC Article
Ljunggren S, Winblad S, Hällgren Graneheim U, Malmgren K, Ozanne A
Epilepsy Behav 2021 Aug;121(Pt A):108077. Epub 2021 Jun 1 doi: 10.1016/j.yebeh.2021.108077. PMID: 34087680
Hirsch E, de Saint-Martin A, Arzimanoglou A
Epilepsia 2000;41 Suppl 5:S13-17. doi: 10.1111/j.1528-1157.2000.tb06042.x. PMID: 11045435

Curated

UK NICE Guideline NG217, Epilepsies in children, young people and adults, 2022

Recent clinical studies

Etiology

Shi YW, Yu MJ, Long YS, Qin B, He N, Meng H, Liu XR, Deng WY, Gao MM, Yi YH, Li BM, Liao WP
Genes Brain Behav 2012 Mar;11(2):170-6. Epub 2011 Dec 14 doi: 10.1111/j.1601-183X.2011.00756.x. PMID: 22151702
Andermann F, Kobayashi E, Andermann E
Epilepsia 2005;46 Suppl 10:61-7. doi: 10.1111/j.1528-1167.2005.00361.x. PMID: 16359475
Ottman R
Epilepsia 2001;42 Suppl 5(Suppl 5):24-30. doi: 10.1046/j.1528-1157.2001.0420s5024.x. PMID: 11887964Free PMC Article
Scheffer IE, Phillips HA, O'Brien CE, Saling MM, Wrennall JA, Wallace RH, Mulley JC, Berkovic SF
Ann Neurol 1998 Dec;44(6):890-9. doi: 10.1002/ana.410440607. PMID: 9851433
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF
Nat Genet 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201. PMID: 7550350

Diagnosis

Morales-Corraliza J, Gómez-Garre P, Sanz R, Díaz-Otero F, Gutiérrez-Delicado E, Serratosa JM
Epilepsia 2010 Sep;51(9):1910-4. doi: 10.1111/j.1528-1167.2010.02680.x. PMID: 20659149
Andermann F, Kobayashi E, Andermann E
Epilepsia 2005;46 Suppl 10:61-7. doi: 10.1111/j.1528-1167.2005.00361.x. PMID: 16359475
Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M
Epilepsia 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x. PMID: 15329069
Callenbach PM, van den Maagdenberg AM, Hottenga JJ, van den Boogerd EH, de Coo RF, Lindhout D, Frants RR, Sandkuijl LA, Brouwer OF
Epilepsia 2003 Oct;44(10):1298-305. doi: 10.1046/j.1528-1157.2003.62302.x. PMID: 14510823
Xiong L, Labuda M, Li DS, Hudson TJ, Desbiens R, Patry G, Verret S, Langevin P, Mercho S, Seni MH, Scheffer I, Dubeau F, Berkovic SF, Andermann F, Andermann E, Pandolfo M
Am J Hum Genet 1999 Dec;65(6):1698-710. doi: 10.1086/302649. PMID: 10577924Free PMC Article

Prognosis

Carreño M, Garcia-Alvarez D, Maestro I, Fernández S, Donaire A, Boget T, Rumià J, Pintor L, Setoain X
Epileptic Disord 2010 Jun;12(2):155-8. Epub 2010 May 18 doi: 10.1684/epd.2010.0307. PMID: 20478764
Andermann F, Kobayashi E, Andermann E
Epilepsia 2005;46 Suppl 10:61-7. doi: 10.1111/j.1528-1167.2005.00361.x. PMID: 16359475
Depondt C, Van Paesschen W, Matthijs G, Legius E, Martens K, Demaerel P, Wilms G
Neurology 2002 May 14;58(9):1429-33. doi: 10.1212/wnl.58.9.1429. PMID: 12011300

Clinical prediction guides

Wang N, Huang HL, Zhou H
Eur Rev Med Pharmacol Sci 2018 Mar;22(6):1765-1769. doi: 10.26355/eurrev_201803_14594. PMID: 29630124
Morales-Corraliza J, Gómez-Garre P, Sanz R, Díaz-Otero F, Gutiérrez-Delicado E, Serratosa JM
Epilepsia 2010 Sep;51(9):1910-4. doi: 10.1111/j.1528-1167.2010.02680.x. PMID: 20659149
Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Díaz-Otero F, Gómez-Garre P, Martín M, Fernández-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M
Epilepsia 2004 Sep;45(9):1054-60. doi: 10.1111/j.0013-9580.2004.30502.x. PMID: 15329069
Callenbach PM, van den Maagdenberg AM, Hottenga JJ, van den Boogerd EH, de Coo RF, Lindhout D, Frants RR, Sandkuijl LA, Brouwer OF
Epilepsia 2003 Oct;44(10):1298-305. doi: 10.1046/j.1528-1157.2003.62302.x. PMID: 14510823
Xiong L, Labuda M, Li DS, Hudson TJ, Desbiens R, Patry G, Verret S, Langevin P, Mercho S, Seni MH, Scheffer I, Dubeau F, Berkovic SF, Andermann F, Andermann E, Pandolfo M
Am J Hum Genet 1999 Dec;65(6):1698-710. doi: 10.1086/302649. PMID: 10577924Free PMC Article

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.

    Curated

    • NICE, 2022
      UK NICE Guideline NG217, Epilepsies in children, young people and adults, 2022

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