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Jackknife Seizures

MedGen UID:
107508
•Concept ID:
C0553558
•
Disease or Syndrome
Synonyms: Jackknife Seizure; Seizure, Jackknife; Seizures, Jackknife

Professional guidelines

PubMed

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
International consensus on diagnosis and management of Dravet syndrome.
Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J
Epilepsia 2022 Jul;63(7):1761-1777. Epub 2022 May 12 doi: 10.1111/epi.17274. PMID: 35490361Free PMC Article
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S
Lancet Neurol 2022 Jun;21(6):563-576. Epub 2022 Apr 25 doi: 10.1016/S1474-4422(22)00035-7. PMID: 35483386Free PMC Article

Recent clinical studies

Etiology

Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I
Brain 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. PMID: 38015929Free PMC Article
A reliable interictal EEG grading scale for children with infantile spasms - The 2021 BASED score.
Mytinger JR, Vidaurre J, Moore-Clingenpeel M, Stanek JR, Albert DVF
Epilepsy Res 2021 Jul;173:106631. Epub 2021 Apr 2 doi: 10.1016/j.eplepsyres.2021.106631. PMID: 33839516
Infantile Spasms: Outcome in Clinical Studies.
Riikonen R
Pediatr Neurol 2020 Jul;108:54-64. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.015. PMID: 32305143
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE
Ann Neurol 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. PMID: 31618474Free PMC Article
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article

Diagnosis

A reliable interictal EEG grading scale for children with infantile spasms - The 2021 BASED score.
Mytinger JR, Vidaurre J, Moore-Clingenpeel M, Stanek JR, Albert DVF
Epilepsy Res 2021 Jul;173:106631. Epub 2021 Apr 2 doi: 10.1016/j.eplepsyres.2021.106631. PMID: 33839516
West syndrome: a comprehensive review.
Pavone P, Polizzi A, Marino SD, Corsello G, Falsaperla R, Marino S, Ruggieri M
Neurol Sci 2020 Dec;41(12):3547-3562. Epub 2020 Aug 22 doi: 10.1007/s10072-020-04600-5. PMID: 32827285Free PMC Article
Infantile Spasms: Outcome in Clinical Studies.
Riikonen R
Pediatr Neurol 2020 Jul;108:54-64. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.015. PMID: 32305143
Infantile Spasms-Have We Made Progress?
Kelley SA, Knupp KG
Curr Neurol Neurosci Rep 2018 Apr 19;18(5):27. doi: 10.1007/s11910-018-0832-8. PMID: 29671077
Infantile spasms.
Hrachovy RA, Frost JD Jr
Handb Clin Neurol 2013;111:611-8. doi: 10.1016/B978-0-444-52891-9.00063-4. PMID: 23622208

Therapy

Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I
Brain 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. PMID: 38015929Free PMC Article
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE
Neurology 2019 Jan 8;92(2):e96-e107. Epub 2018 Dec 12 doi: 10.1212/WNL.0000000000006729. PMID: 30541864Free PMC Article
Infantile Spasms-Have We Made Progress?
Kelley SA, Knupp KG
Curr Neurol Neurosci Rep 2018 Apr 19;18(5):27. doi: 10.1007/s11910-018-0832-8. PMID: 29671077
Infantile spasms.
Chugani HT
Curr Opin Neurol 1995 Apr;8(2):139-44. doi: 10.1097/00019052-199504000-00010. PMID: 7620588
Infantile spasms.
Hrachovy RA, Frost JD Jr
Pediatr Clin North Am 1989 Apr;36(2):311-29. doi: 10.1016/s0031-3955(16)36651-2. PMID: 2538796

Prognosis

West syndrome: a comprehensive review.
Pavone P, Polizzi A, Marino SD, Corsello G, Falsaperla R, Marino S, Ruggieri M
Neurol Sci 2020 Dec;41(12):3547-3562. Epub 2020 Aug 22 doi: 10.1007/s10072-020-04600-5. PMID: 32827285Free PMC Article
Infantile Spasms: Outcome in Clinical Studies.
Riikonen R
Pediatr Neurol 2020 Jul;108:54-64. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.015. PMID: 32305143
Infantile Spasms-Have We Made Progress?
Kelley SA, Knupp KG
Curr Neurol Neurosci Rep 2018 Apr 19;18(5):27. doi: 10.1007/s11910-018-0832-8. PMID: 29671077
Infantile spasms.
Kossoff EH
Neurologist 2010 Mar;16(2):69-75. doi: 10.1097/NRL.0b013e3181d1416c. PMID: 20220440
Fetal stroke.
Ozduman K, Pober BR, Barnes P, Copel JA, Ogle EA, Duncan CC, Ment LR
Pediatr Neurol 2004 Mar;30(3):151-62. doi: 10.1016/j.pediatrneurol.2003.08.004. PMID: 15033196

Clinical prediction guides

CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.
Hong W, Haviland I, Pestana-Knight E, Weisenberg JL, Demarest S, Marsh ED, Olson HE
CNS Drugs 2022 Jun;36(6):591-604. Epub 2022 May 28 doi: 10.1007/s40263-022-00921-5. PMID: 35633486Free PMC Article
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I
Brain 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. PMID: 35190816Free PMC Article
A reliable interictal EEG grading scale for children with infantile spasms - The 2021 BASED score.
Mytinger JR, Vidaurre J, Moore-Clingenpeel M, Stanek JR, Albert DVF
Epilepsy Res 2021 Jul;173:106631. Epub 2021 Apr 2 doi: 10.1016/j.eplepsyres.2021.106631. PMID: 33839516
Infantile Spasms: Outcome in Clinical Studies.
Riikonen R
Pediatr Neurol 2020 Jul;108:54-64. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.015. PMID: 32305143
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE
Ann Neurol 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. PMID: 31618474Free PMC Article

Recent systematic reviews

Treatment of children with infantile spasms: A network meta-analysis.
Jain P, Sahu JK, Horn PS, Chau V, Go C, Mahood Q, Arya R
Dev Med Child Neurol 2022 Nov;64(11):1330-1343. Epub 2022 Jun 29 doi: 10.1111/dmcn.15330. PMID: 35765990
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
A systematic review of adults with Dravet syndrome.
Selvarajah A, Zulfiqar-Ali Q, Marques P, Rong M, Andrade DM
Seizure 2021 Apr;87:39-45. Epub 2021 Feb 22 doi: 10.1016/j.seizure.2021.02.025. PMID: 33677403
Treatment of infantile spasms.
Hancock EC, Osborne JP, Edwards SW
Cochrane Database Syst Rev 2013 Jun 5;2013(6):CD001770. doi: 10.1002/14651858.CD001770.pub3. PMID: 23740534Free PMC Article
Treatment of Lennox-Gastaut syndrome.
Hancock EC, Cross JH
Cochrane Database Syst Rev 2013 Feb 28;2013(2):CD003277. doi: 10.1002/14651858.CD003277.pub3. PMID: 23450537Free PMC Article

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