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Aggravated Epilepsy

MedGen UID:
163113
•Concept ID:
C0852977
•
Disease or Syndrome

Definition

An increase in the duration or intensity of epileptic symptoms in the setting of chronic epilepsy. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAggravated Epilepsy

Professional guidelines

PubMed

Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint.
Valente KD, Varela MC, Koiffmann CP, Andrade JQ, Grossmann R, Kok F, Marques-Dias MJ
Epilepsy Res 2013 Jul;105(1-2):234-9. Epub 2013 Jan 23 doi: 10.1016/j.eplepsyres.2012.12.005. PMID: 23352739

Recent clinical studies

Etiology

SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N
Brain 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. PMID: 37467479Free PMC Article
Single-Gene Determinants of Epilepsy Comorbidity.
Noebels JL
Cold Spring Harb Perspect Med 2015 Nov 2;5(11) doi: 10.1101/cshperspect.a022756. PMID: 26525453Free PMC Article
Epilepsy and physical exercise.
Pimentel J, Tojal R, Morgado J
Seizure 2015 Feb;25:87-94. Epub 2014 Oct 14 doi: 10.1016/j.seizure.2014.09.015. PMID: 25458104
Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study.
Ryvlin P, Nashef L, Lhatoo SD, Bateman LM, Bird J, Bleasel A, Boon P, Crespel A, Dworetzky BA, Høgenhaven H, Lerche H, Maillard L, Malter MP, Marchal C, Murthy JM, Nitsche M, Pataraia E, Rabben T, Rheims S, Sadzot B, Schulze-Bonhage A, Seyal M, So EL, Spitz M, Szucs A, Tan M, Tao JX, Tomson T
Lancet Neurol 2013 Oct;12(10):966-77. Epub 2013 Sep 4 doi: 10.1016/S1474-4422(13)70214-X. PMID: 24012372
Treatment strategies.
Chiron C, Duchowny M
Handb Clin Neurol 2013;111:727-39. doi: 10.1016/B978-0-444-52891-9.00075-0. PMID: 23622220

Diagnosis

Migraine without aura.
Paemeleire K, Vandenbussche N, Stark R
Handb Clin Neurol 2023;198:151-167. doi: 10.1016/B978-0-12-823356-6.00007-X. PMID: 38043959
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K, Czernia J, Krawczyk M
Int J Mol Sci 2023 Nov 14;24(22) doi: 10.3390/ijms242216280. PMID: 38003469Free PMC Article
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N
Brain 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. PMID: 37467479Free PMC Article
Clinical and experimental insight into pathophysiology, comorbidity and therapy of absence seizures.
Crunelli V, Lőrincz ML, McCafferty C, Lambert RC, Leresche N, Di Giovanni G, David F
Brain 2020 Aug 1;143(8):2341-2368. doi: 10.1093/brain/awaa072. PMID: 32437558Free PMC Article
Treatment strategies.
Chiron C, Duchowny M
Handb Clin Neurol 2013;111:727-39. doi: 10.1016/B978-0-444-52891-9.00075-0. PMID: 23622220

Therapy

Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K, Czernia J, Krawczyk M
Int J Mol Sci 2023 Nov 14;24(22) doi: 10.3390/ijms242216280. PMID: 38003469Free PMC Article
Vaccination and childhood epilepsies.
Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM
Eur J Paediatr Neurol 2022 Jan;36:57-68. Epub 2021 Dec 3 doi: 10.1016/j.ejpn.2021.11.014. PMID: 34922162
Why a d-β-hydroxybutyrate monoester?
Soto-Mota A, Norwitz NG, Clarke K
Biochem Soc Trans 2020 Feb 28;48(1):51-59. doi: 10.1042/BST20190240. PMID: 32096539Free PMC Article
Diagnosing and treating depression in epilepsy.
Elger CE, Johnston SA, Hoppe C
Seizure 2017 Jan;44:184-193. Epub 2016 Oct 31 doi: 10.1016/j.seizure.2016.10.018. PMID: 27836391
Treatment strategies.
Chiron C, Duchowny M
Handb Clin Neurol 2013;111:727-39. doi: 10.1016/B978-0-444-52891-9.00075-0. PMID: 23622220

Prognosis

Impact of NQO1 dysregulation in CNS disorders.
Yuhan L, Khaleghi Ghadiri M, Gorji A
J Transl Med 2024 Jan 2;22(1):4. doi: 10.1186/s12967-023-04802-3. PMID: 38167027Free PMC Article
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K, Czernia J, Krawczyk M
Int J Mol Sci 2023 Nov 14;24(22) doi: 10.3390/ijms242216280. PMID: 38003469Free PMC Article
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N
Brain 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. PMID: 37467479Free PMC Article
Genetic/idiopathic generalized epilepsies: Not so good as that!
Nilo A, Gelisse P, Crespel A
Rev Neurol (Paris) 2020 Jun;176(6):427-438. Epub 2020 May 15 doi: 10.1016/j.neurol.2020.03.018. PMID: 32423603
Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study.
Ryvlin P, Nashef L, Lhatoo SD, Bateman LM, Bird J, Bleasel A, Boon P, Crespel A, Dworetzky BA, Høgenhaven H, Lerche H, Maillard L, Malter MP, Marchal C, Murthy JM, Nitsche M, Pataraia E, Rabben T, Rheims S, Sadzot B, Schulze-Bonhage A, Seyal M, So EL, Spitz M, Szucs A, Tan M, Tao JX, Tomson T
Lancet Neurol 2013 Oct;12(10):966-77. Epub 2013 Sep 4 doi: 10.1016/S1474-4422(13)70214-X. PMID: 24012372

Clinical prediction guides

Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial.
van Arnhem MML, van den Munckhof B, Arzimanoglou A, Perucca E, Metsähonkala L, Rubboli G, Søndergaard Khinchi M, de Saint-Martin A, Klotz KA, Jacobs J, Cross JH, Garcia Morales I, Otte WM, van Teeseling HC, Leijten FSS, Braun KPJ, Jansen FE; RESCUE ESES study group
Lancet Neurol 2024 Feb;23(2):147-156. Epub 2023 Dec 8 doi: 10.1016/S1474-4422(23)00409-X. PMID: 38081201
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N
Brain 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. PMID: 37467479Free PMC Article
Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.
Hofmeister B, von Stülpnagel C, Betzler C, Mari F, Renieri A, Baldassarri M, Haberlandt E, Jansen K, Schilling S, Weber P, Ahlbory K, Tang S, Berweck S, Kluger G
Neuropediatrics 2021 Apr;52(2):109-122. Epub 2021 Feb 12 doi: 10.1055/s-0041-1722878. PMID: 33578439
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita H, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi JI, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N
Brain Dev 2021 Apr;43(4):505-514. Epub 2021 Jan 9 doi: 10.1016/j.braindev.2020.12.006. PMID: 33436160
KCTD7-related progressive myoclonus epilepsy.
Van Bogaert P
Epileptic Disord 2016 Sep 1;18(S2):115-119. doi: 10.1684/epd.2016.0856. PMID: 27629772

Recent systematic reviews

Association of seizure with COVID-19 vaccines in persons with epilepsy: A systematic review and meta-analysis.
Rafati A, Jameie M, Amanollahi M, Jameie M, Pasebani Y, Sakhaei D, Ilkhani S, Rashedi S, Pasebani MY, Azadi M, Rahimlou M, Kwon CS
J Med Virol 2023 Sep;95(9):e29118. doi: 10.1002/jmv.29118. PMID: 37732629
Vaccination and childhood epilepsies.
Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM
Eur J Paediatr Neurol 2022 Jan;36:57-68. Epub 2021 Dec 3 doi: 10.1016/j.ejpn.2021.11.014. PMID: 34922162
Prevalence of epilepsy in autism spectrum disorders: A systematic review and meta-analysis.
Liu X, Sun X, Sun C, Zou M, Chen Y, Huang J, Wu L, Chen WX
Autism 2022 Jan;26(1):33-50. Epub 2021 Sep 13 doi: 10.1177/13623613211045029. PMID: 34510916
Comorbidities of epilepsy in low and middle-income countries: systematic review and meta-analysis.
Muhigwa A, Preux PM, Gérard D, Marin B, Boumediène F, Ntamwira C, Tsai CH
Sci Rep 2020 Jun 2;10(1):9015. doi: 10.1038/s41598-020-65768-6. PMID: 32488109Free PMC Article
Efficacy of lacosamide in children and adolescents with drug-resistant epilepsy and refractory status epilepticus: A systematic review.
Ortiz de la Rosa JS, Ladino LD, Rodríguez PJ, Rueda MC, Polanía JP, Castañeda AC
Seizure 2018 Mar;56:34-40. Epub 2018 Feb 8 doi: 10.1016/j.seizure.2018.01.014. PMID: 29428899

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