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Seizures, intractable, neonatal

MedGen UID:
463035
•Concept ID:
C3151685
•
Disease or Syndrome
Synonym: Seizures, neonatal, refractory

Professional guidelines

PubMed

Neonatal seizures: dilemmas in workup and management.
Bassan H, Bental Y, Shany E, Berger I, Froom P, Levi L, Shiff Y
Pediatr Neurol 2008 Jun;38(6):415-21. doi: 10.1016/j.pediatrneurol.2008.03.003. PMID: 18486824

Recent clinical studies

Etiology

Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
Neurosteroids and Seizure Activity.
Miziak B, Chrościńska-Krawczyk M, Czuczwar SJ
Front Endocrinol (Lausanne) 2020;11:541802. Epub 2020 Sep 30 doi: 10.3389/fendo.2020.541802. PMID: 33117274Free PMC Article
Current understanding and neurobiology of epileptic encephalopathies.
Auvin S, Cilio MR, Vezzani A
Neurobiol Dis 2016 Aug;92(Pt A):72-89. Epub 2016 Mar 16 doi: 10.1016/j.nbd.2016.03.007. PMID: 26992889
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free 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

Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free PMC Article
Neonatal seizures: diagnosis and management.
Seshia SS, Huntsman RJ, Lowry NJ, Seshia M, Yager JY, Sankaran K
Zhongguo Dang Dai Er Ke Za Zhi 2011 Feb;13(2):81-100. PMID: 21342614
The progression of epilepsy.
Blume WT
Epilepsia 2006;47 Suppl 1:71-8. doi: 10.1111/j.1528-1167.2006.00665.x. PMID: 17044831
Pyridoxine-dependent seizures: a review.
Rajesh R, Girija AS
Indian Pediatr 2003 Jul;40(7):633-8. PMID: 12881619

Therapy

Epilepsy in Angelman syndrome: A scoping review.
Samanta D
Brain Dev 2021 Jan;43(1):32-44. Epub 2020 Sep 4 doi: 10.1016/j.braindev.2020.08.014. PMID: 32893075Free PMC Article
Neurosteroids and Seizure Activity.
Miziak B, Chrościńska-Krawczyk M, Czuczwar SJ
Front Endocrinol (Lausanne) 2020;11:541802. Epub 2020 Sep 30 doi: 10.3389/fendo.2020.541802. PMID: 33117274Free PMC Article
Molybdenum cofactor deficiency.
Atwal PS, Scaglia F
Mol Genet Metab 2016 Jan;117(1):1-4. Epub 2015 Nov 25 doi: 10.1016/j.ymgme.2015.11.010. PMID: 26653176
Cannabidiol: pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders.
Devinsky O, Cilio MR, Cross H, Fernandez-Ruiz J, French J, Hill C, Katz R, Di Marzo V, Jutras-Aswad D, Notcutt WG, Martinez-Orgado J, Robson PJ, Rohrback BG, Thiele E, Whalley B, Friedman D
Epilepsia 2014 Jun;55(6):791-802. Epub 2014 May 22 doi: 10.1111/epi.12631. PMID: 24854329Free PMC Article
Infantile spasms.
Zupanc ML
Expert Opin Pharmacother 2003 Nov;4(11):2039-48. doi: 10.1517/14656566.4.11.2039. PMID: 14596657

Prognosis

Molybdenum cofactor deficiency: A natural history.
Spiegel R, Schwahn BC, Squires L, Confer N
J Inherit Metab Dis 2022 May;45(3):456-469. Epub 2022 Mar 3 doi: 10.1002/jimd.12488. PMID: 35192225Free PMC Article
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free PMC Article
Neonatal seizures: diagnosis and management.
Seshia SS, Huntsman RJ, Lowry NJ, Seshia M, Yager JY, Sankaran K
Zhongguo Dang Dai Er Ke Za Zhi 2011 Feb;13(2):81-100. PMID: 21342614
The progression of epilepsy.
Blume WT
Epilepsia 2006;47 Suppl 1:71-8. doi: 10.1111/j.1528-1167.2006.00665.x. PMID: 17044831
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

Clinical predictors of drug-resistant epilepsy in children.
Karaoğlu P, Yaş U, Polat Aİ, Ayanoğlu M, Hız S
Turk J Med Sci 2021 Jun 28;51(3):1249-1252. doi: 10.3906/sag-2010-27. PMID: 33600098Free PMC Article
Neurosteroids and Seizure Activity.
Miziak B, Chrościńska-Krawczyk M, Czuczwar SJ
Front Endocrinol (Lausanne) 2020;11:541802. Epub 2020 Sep 30 doi: 10.3389/fendo.2020.541802. PMID: 33117274Free PMC Article
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P, Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Taglialatela M
Pflugers Arch 2020 Jul;472(7):881-898. Epub 2020 Jun 6 doi: 10.1007/s00424-020-02404-2. PMID: 32506321
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J
Neurology 2019 Mar 12;92(11):e1238-e1249. Epub 2019 Feb 8 doi: 10.1212/WNL.0000000000007089. PMID: 30737342Free PMC Article
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free PMC Article

Recent systematic reviews

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P
Epilepsia Open 2024 Feb;9(1):106-121. Epub 2023 Nov 27 doi: 10.1002/epi4.12837. PMID: 37842880Free PMC Article
Neurosteroids and Seizure Activity.
Miziak B, Chrościńska-Krawczyk M, Czuczwar SJ
Front Endocrinol (Lausanne) 2020;11:541802. Epub 2020 Sep 30 doi: 10.3389/fendo.2020.541802. PMID: 33117274Free PMC Article
Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis.
Fallah A, Guyatt GH, Snead OC 3rd, Ebrahim S, Ibrahim GM, Mansouri A, Reddy D, Walter SD, Kulkarni AV, Bhandari M, Banfield L, Bhatnagar N, Liang S, Teutonico F, Liao J, Rutka JT
PLoS One 2013;8(2):e53565. Epub 2013 Feb 6 doi: 10.1371/journal.pone.0053565. PMID: 23405072Free PMC Article

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