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Cortical dysplasia with focal epilepsy syndrome(CDFES)

MedGen UID:
1639771
•Concept ID:
C4552043
•
Disease or Syndrome
Synonym: Cortical Dysplasia-Focal Epilepsy Syndrome
SNOMED CT: CDFE (cortical dysplasia focal epilepsy) syndrome (771142009); Cortical dysplasia with focal epilepsy syndrome (771142009)
 
OMIM®: 610042

Definition

A rare genetic epilepsy characterised by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioural abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behaviour, autistic features) and intellectual disability later in life. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCortical dysplasia with focal epilepsy syndrome

Professional guidelines

PubMed

Surgical treatment of pediatric focal cortical dysplasia: Clinical spectrum and surgical outcome.
Kwon HE, Eom S, Kang HC, Lee JS, Kim SH, Kim DS, Kim HD
Neurology 2016 Aug 30;87(9):945-51. Epub 2016 Jul 27 doi: 10.1212/WNL.0000000000003042. PMID: 27466475
Treatment options and paradigms in childhood temporal lobe epilepsy.
Ray A, Wyllie E
Expert Rev Neurother 2005 Nov;5(6):785-801. doi: 10.1586/14737175.5.6.785. PMID: 16274336
Clinical spectrum of cortical dysplasia in childhood: diagnosis and treatment issues.
Whiting S, Duchowny M
J Child Neurol 1999 Dec;14(12):759-71. doi: 10.1177/088307389901401201. PMID: 10614562

Recent clinical studies

Etiology

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA, McKhann GM, Goldman JE, Canoll P, Alexander AL, Park KL, Von Allmen GK, Rodziyevska O, Bhattacharjee MB, Lidov HGW, Vogel H, Grant GA, Porter BE, Poduri AH, Crino PB, Heinzen EL
Brain 2022 Aug 27;145(8):2704-2720. doi: 10.1093/brain/awac117. PMID: 35441233Free PMC Article
The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS
Epilepsia 2021 Feb;62(2):358-370. Epub 2021 Jan 21 doi: 10.1111/epi.16810. PMID: 33475165
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Surgery for epilepsy.
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Infantile spasms.
Zupanc ML
Expert Opin Pharmacother 2003 Nov;4(11):2039-48. doi: 10.1517/14656566.4.11.2039. PMID: 14596657

Diagnosis

The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS
Epilepsia 2021 Feb;62(2):358-370. Epub 2021 Jan 21 doi: 10.1111/epi.16810. PMID: 33475165
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Surgery for epilepsy.
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Neuropathology of epilepsy.
Aronica E, Mühlebner A
Handb Clin Neurol 2017;145:193-216. doi: 10.1016/B978-0-12-802395-2.00015-8. PMID: 28987170
Functional imaging: PET.
Kumar A, Chugani HT
Handb Clin Neurol 2013;111:767-76. doi: 10.1016/B978-0-444-52891-9.00079-8. PMID: 23622224

Therapy

Current and future pharmacotherapy options for drug-resistant epilepsy.
Elkommos S, Mula M
Expert Opin Pharmacother 2022 Dec;23(18):2023-2034. Epub 2022 Sep 27 doi: 10.1080/14656566.2022.2128670. PMID: 36154780
The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS
Epilepsia 2021 Feb;62(2):358-370. Epub 2021 Jan 21 doi: 10.1111/epi.16810. PMID: 33475165
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Surgery for epilepsy.
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism.
Peñagarikano O, Lázaro MT, Lu XH, Gordon A, Dong H, Lam HA, Peles E, Maidment NT, Murphy NP, Yang XW, Golshani P, Geschwind DH
Sci Transl Med 2015 Jan 21;7(271):271ra8. doi: 10.1126/scitranslmed.3010257. PMID: 25609168Free PMC Article

Prognosis

Pharmacotherapy for Seizures in Tuberous Sclerosis Complex.
Nabbout R, Kuchenbuch M, Chiron C, Curatolo P
CNS Drugs 2021 Sep;35(9):965-983. Epub 2021 Aug 21 doi: 10.1007/s40263-021-00835-8. PMID: 34417984
The severe epilepsy syndromes of infancy: A population-based study.
Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS
Epilepsia 2021 Feb;62(2):358-370. Epub 2021 Jan 21 doi: 10.1111/epi.16810. PMID: 33475165
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Surgery for epilepsy.
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Infantile spasms.
Zupanc ML
Expert Opin Pharmacother 2003 Nov;4(11):2039-48. doi: 10.1517/14656566.4.11.2039. PMID: 14596657

Clinical prediction guides

Pharmacotherapy for Seizures in Tuberous Sclerosis Complex.
Nabbout R, Kuchenbuch M, Chiron C, Curatolo P
CNS Drugs 2021 Sep;35(9):965-983. Epub 2021 Aug 21 doi: 10.1007/s40263-021-00835-8. PMID: 34417984
Surgery for epilepsy.
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Innate and adaptive immunity in human epilepsies.
Bauer J, Becker AJ, Elyaman W, Peltola J, Rüegg S, Titulaer MJ, Varley JA, Beghi E
Epilepsia 2017 Jul;58 Suppl 3(Suppl Suppl 3):57-68. doi: 10.1111/epi.13784. PMID: 28675562Free PMC Article
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.
Bartolini E, Falchi M, Zellini F, Parrini E, Grisotto L, Cosottini M, Posar A, Parmeggiani A, Ambrosetto G, Ferrari AR, Santucci M, Salas-Puig J, Barba C, Guerrini R
Neurology 2016 Mar 29;86(13):1250-9. Epub 2016 Mar 4 doi: 10.1212/WNL.0000000000002526. PMID: 26944271
Epilepsies associated with focal cortical dysplasias (FCDs).
Najm IM, Tassi L, Sarnat HB, Holthausen H, Russo GL
Acta Neuropathol 2014 Jul;128(1):5-19. Epub 2014 Jun 12 doi: 10.1007/s00401-014-1304-0. PMID: 24916270

Recent systematic reviews

Seizure control after epilepsy surgery in early childhood: A systematic review and meta-analysis.
Li H, Ji S, Dong B, Chen L
Epilepsy Behav 2021 Dec;125:108369. Epub 2021 Oct 29 doi: 10.1016/j.yebeh.2021.108369. PMID: 34731717
Surgery for epilepsy.
West S, Nevitt SJ, Cotton J, Gandhi S, Weston J, Sudan A, Ramirez R, Newton R
Cochrane Database Syst Rev 2019 Jun 25;6(6):CD010541. doi: 10.1002/14651858.CD010541.pub3. PMID: 31237346Free PMC Article
Preoperative evaluation and surgical management of infants and toddlers with drug-resistant epilepsy.
Pindrik J, Hoang N, Smith L, Halverson M, Wojnaroski M, McNally K, Gedela S, Ostendorf AP
Neurosurg Focus 2018 Sep;45(3):E3. doi: 10.3171/2018.7.FOCUS18220. PMID: 30173613
Isolated amygdala enlargement in temporal lobe epilepsy: A systematic review.
Beh SMJ, Cook MJ, D'Souza WJ
Epilepsy Behav 2016 Jul;60:33-41. Epub 2016 May 10 doi: 10.1016/j.yebeh.2016.04.015. PMID: 27176882
Pathogenetic mechanisms of focal cortical dysplasia.
Marin-Valencia I, Guerrini R, Gleeson JG
Epilepsia 2014 Jul;55(7):970-8. Epub 2014 May 23 doi: 10.1111/epi.12650. PMID: 24861491Free PMC Article

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