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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

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B; Study Group of GNAO1 patients from Spain
Mov Disord 2024 Sep;39(9):1578-1591. Epub 2024 Jun 16 doi: 10.1002/mds.29881. PMID: 38881224
Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication: Practice Guideline From the AAN, AES, and SMFM.
Pack AM, Oskoui M, Williams Roberson S, Donley DK, French J, Gerard EE, Gloss D, Miller WR, Munger Clary HM, Osmundson SS, McFadden B, Parratt K, Pennell PB, Saade G, Smith DB, Sullivan K, Thomas SV, Tomson T, Dolan O'Brien M, Botchway-Doe K, Silsbee HM, Keezer MR
Neurology 2024 Jun;102(11):e209279. Epub 2024 May 15 doi: 10.1212/WNL.0000000000209279. PMID: 38748979Free PMC Article
International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).
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

Curated

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

Recent clinical studies

Etiology

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
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
Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation.
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
Genetic focal epilepsies: state of the art and paths to the future.
Andermann F, Kobayashi E, Andermann E
Epilepsia 2005;46 Suppl 10:61-7. doi: 10.1111/j.1528-1167.2005.00361.x. PMID: 16359475
Progress in the genetics of the partial epilepsies.
Ottman R
Epilepsia 2001;42 Suppl 5(Suppl 5):24-30. doi: 10.1046/j.1528-1157.2001.0420s5024.x. PMID: 11887964Free PMC Article
Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2.
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

Diagnosis

Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12.
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
Genetic focal epilepsies: state of the art and paths to the future.
Andermann F, Kobayashi E, Andermann E
Epilepsia 2005;46 Suppl 10:61-7. doi: 10.1111/j.1528-1167.2005.00361.x. PMID: 16359475
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
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
Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q.
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
Familial temporal lobe epilepsy: a common disorder identified in twins.
Berkovic SF, McIntosh A, Howell RA, Mitchell A, Sheffield LJ, Hopper JL
Ann Neurol 1996 Aug;40(2):227-35. doi: 10.1002/ana.410400214. PMID: 8773604

Prognosis

Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation.
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
Genetic focal epilepsies: state of the art and paths to the future.
Andermann F, Kobayashi E, Andermann E
Epilepsia 2005;46 Suppl 10:61-7. doi: 10.1111/j.1528-1167.2005.00361.x. PMID: 16359475
Familial temporal lobe epilepsy with febrile seizures.
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

Study of candidate gene cHRNA4 for familial epilepsy syndrome.
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
Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12.
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
Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12.
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
Familial partial epilepsy with variable foci in a Dutch family: clinical characteristics and confirmation of linkage to chromosome 22q.
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
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.
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

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    Clinical resources

    Practice guidelines

    • PubMed
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    Curated

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

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
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