Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-cd9895bd7-dzt6s Total loading time: 0 Render date: 2024-12-23T17:42:06.717Z Has data issue: false hasContentIssue false

Chapter 9 - Neonatal Onset Epilepsy

from Part II - Practice of Neuromonitoring: Neonatal Intensive Care Unit

Published online by Cambridge University Press:  08 September 2022

By
Akihisa Okumura
Edited by
Cecil D. Hahn  and
Courtney J. Wusthoff
Cecil D. Hahn
Affiliation:
The Hospital for Sick Children, University of Toronto
Courtney J. Wusthoff
Affiliation:
Lucile Packard Children’s Hospital, Stanford University
Get access

Summary

Neonatal onset epilepsies are infrequent compared with neonatal seizures caused by acute symptomatic etiologies. Etiologies of neonatal epilepsies are classified into structural, genetic, and metabolic causes. EEG and amplitude-integrated EEG (aEEG) are essential for the diagnosis and monitoring of these conditions. EEG/aEEG findings often differ substantially among infants; unusual findings, such as downward seizure patterns on aEEG, can be found. Focal-onset seizures are very frequent, and epileptic spasms are infrequently observed. Myoclonic seizures with ictal EEG correlates and generalized tonic seizures are exceptional. Although burst suppression is known as the EEG hallmark of early infantile epileptic encephalopathy (EIEE) and early myoclonic encephalopathy (EME), the definition of “burst suppression” differs among researchers. Additional information is necessary to better understand the EEG/aEEG findings related to neonatal epilepsies and to clarify their utility in the diagnosis of neonatal epilepsies and monitoring the efficacy of treatment.

Keywords

neonateepilepsyEEGaEEGOhtahara syndromebenign familial neonatal seizuresearly infantile epileptic encephalopathy (EIEE)early myoclonic encephalopathy (EME)brain malformation
Type
Chapter
Information
Neuromonitoring in Neonatal and Pediatric Critical Care , pp. 126 - 136
Publisher: Cambridge University Press
Print publication year: 2022

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Shellhaas, RA, Wusthoff, CJ, Tsuchida, TN, et al; Neonatal Seizure Registry. Profile of neonatal epilepsies: characteristics of a prospective US cohort. Neurology. 2017 Aug 29;89(9):893–9.CrossRefGoogle ScholarPubMed
Axeen, EJT, Olson, HE. Neonatal epilepsy genetics. Semin Fetal Neonatal Med. 2018 Jun;23(3):197–203.Google Scholar
Sheth, RD, Hobbs, GR, Mullett, M. Neonatal seizures: incidence, onset and aetiology by gestational age. J Perinatol. 1999;19:40e3.CrossRefGoogle ScholarPubMed
Tekgul, H, Gauvreau, K, Soul, J, et al. The current etiologic profile and neurodevelopmental outcome of seizures in term newborn infants. Pediatrics. 2006;117:1270–80.Google Scholar
Singh, NA, Charlier, C, Stauffer, D, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet. 1998;18:25–9.Google Scholar
Weckhuysen, S, Mandelstam, S, Suls, A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neurol. 2012;71:15–25.Google Scholar
Heron, SE, Crossland, KM, Andermann, E, et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 2002;360:851–2.CrossRefGoogle ScholarPubMed
Dulac, O, Plecko, B, Gataullina, S, et al. Occasional seizures, epilepsy, and inborn errors of metabolism. Lancet Neurol. 2014;13:727–39.Google Scholar
Santarone, ME, Pietrafusa, N, Fusco, L. Neonatal seizures: When semiology points to etiology. Seizure. 2020 Aug;80:161–5.Google Scholar
Nunes, ML, Yozawitz, EG, Zuberi, S, et al; Task Force on Neonatal Seizures, ILAE Commission on Classification & Terminology. Neonatal seizures: Is there a relationship between ictal electroclinical features and etiology? A critical appraisal based on a systematic literature review. Epilepsia Open. 2019 Jan 25;4(1):10–29; 20.Google Scholar
Olson, HE, Kelly, M, LaCoursiere, CM, et al. Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. Ann Neurol. 2017 Mar;81(3):419–29.Google Scholar
Murray, DM, Boylan, GB, Ali, I, et al. Defining the gap between electrographic seizure burden, clinical expression and staff recognition of neonatal seizures. Arch Dis Child Fetal Neonatal Ed. 2008;93:F187–91.CrossRefGoogle ScholarPubMed
Shellhaas, RA, Chang, T, Tsuchida, T, et al. The American Clinical Neurophysiology Society’s Guideline on Continuous Electroencephalography Monitoring in Neonates. J Clin Neurophysiol. 2011;28: 611–17.Google Scholar
Wusthoff, CJ. Diagnosing neonatal seizures and status epilepticus. J Clin Neurophysiol. 2013;30:115–21.Google Scholar
Clancy, RR, Legido, A. The exact ictal and interictal duration of electroencephalographic neonatal seizures. Epilepsia. 1987;28:537–41.CrossRefGoogle ScholarPubMed
Abend, NS, Wusthoff, CJ. Neonatal seizures and status epilepticus. J Clin Neurophysiol. 2012;29:441–8.CrossRefGoogle ScholarPubMed
Pressler RM, Cilio MR, Mizrahi E, et al; The ILAE classification of seizures and the epilepsies. Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia. 22021;62(3):615–628.Google Scholar
Fusco, L, Vigevano, F. Ictal clinical electroencephalographic findings of spasms in West syndrome. Epilepsia. 1993;34:671–8.CrossRefGoogle ScholarPubMed
Watanabe, K, Negoro, T, Okumura, A. Symptomatology of infantile spasms. Brain Dev. 2001;23:453–66.CrossRefGoogle ScholarPubMed
Vigevano, F, Fusco, L, Pachatz, C. Neurophysiology of spasms. Brain Dev. 2001;23:467–72.CrossRefGoogle ScholarPubMed
Nariai, H, Nagasawa, T, Juhász, C, et al. Statistical mapping of ictal high-frequency oscillations in epileptic spasms. Epilepsia. 2011;52:63–74.CrossRefGoogle ScholarPubMed
Mizrahi, EM, Kellaway, P. Diagnosis and Management of Neonatal Seizures. New York: Lippincott-Raven; 1998.Google Scholar
Watanabe, K, Hara, K, Iwase, K. The evolution of neurophysiological features in holoprosencephaly. Neuropaediatrie. 1976;7:19–41.Google Scholar
Yamamoto, N, Watanabe, K, Negoro, T, et al. Complex partial seizures in children: ictal manifestations and their relation to clinical course. Neurology. 1987;37:1379–82.Google Scholar
Ohtahara, S, Yamatogi, Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol. 2003;20:398–407.Google Scholar
Watanabe, K, Miyazaki, S, Hara, K, et al. Behavioral state cycles, background EEGs and prognosis of newborns with perinatal hypoxia. Electroencephalogr Clin Neurophysiol. 1980;49:618–25.Google Scholar
Shah, NA, Wusthoff, CJ. How to use: amplitude-integrated EEG (aEEG). Arch Dis Child Educ Pract Ed. 2015;100:75–81.CrossRefGoogle ScholarPubMed
Hellström-Westas, L, de Vries, LS, Rosén, I. An Atlas of Amplitude-Integrated EEGs in the Newborn, 2nd ed. London: Informa Healthcare; 2003.Google Scholar
Kidokoro, H, Inder, T, Okumura, A, et al. What does cyclicity on amplitude-integrated EEG mean? J Perinatol. 2012;32:565–9.Google Scholar
Ito, M, Kidokoro, H, Sugiyama, Y, et al. Paradoxical downward seizure pattern on amplitude-integrated electroencephalogram. J Perinatol. 2014;34:642–4.Google Scholar
Vilan, A, Mendes Ribeiro, J, Striano, P, et al. A distinctive ictal amplitude-integrated electroencephalography pattern in newborns with neonatal epilepsy associated with KCNQ2 mutations. Neonatology. 2017;112(4):387–93.Google Scholar
Wusthoff, CJ, Shellhaas, RA, Clancy, RR. Limitations of single-channel EEG on the forehead for neonatal seizure detection. J Perinatol. 2009;29:237–42.CrossRefGoogle ScholarPubMed
Kidokoro, H, Kubota, T, Hayakawa, M, et al. Neonatal seizure identification on reduced channel EEG. Arch Dis Child Fetal Neonatal Ed. 2013;98:F359–61.Google Scholar
van Rooij, LG, Toet, MC, van Huffelen, AC, et al. Effect of treatment of subclinical neonatal seizures detected with aEEG: randomized, controlled trial. Pediatrics. 2010;125:e358–66.Google Scholar
Rett, A, Teubel, R. Neugeborenenkrämpfe im Rahmen einer epileptisch belasten Familie. Wiener Klinische Wochenschrif. 1964;76:609–13.Google Scholar
Biervert, C, Schroeder, BC, Kubisch, C, et al. A potassium channel mutation in neonatal human epilepsy. Science. 1998 Jan 16;279(5349):403–6.Google Scholar
Grinton, BE, Heron, SE, Pelekanos, JT, et al. Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome. Epilepsia. 2015 Jul;56(7):1071–80.Google Scholar
Charlier, C, Singh, NA, Ryan, SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet. 1998;18:53–5.Google Scholar
Dehan, M, Quillerou, D, Navelet, Y, et al. Convulsions in the fifth day of life: a new syndrome? Arch Fr Pediatr. 1977;34:730–42. [in French]Google Scholar
Ronen, GM, Rosales, TO, Connolly, M, Anderson, VE, Leppert, M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology. 1993 Jul;43(7):1355–60.Google Scholar
Okumura, A, Ishii, A, Shimojima, K, et al. Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4. Epileptic Disord. 2015;17:165–71.Google Scholar
Ohtahara, S, Ishida, T, Oka, E, et al. On the specific age-dependent epileptic syndromes: the early-infantile epileptic encephalopathy with suppression-burst. No To Hattatsu. 1976;8:270–80. [in Japanese]Google Scholar
Aicardi, J, Goutiéres, F. Encéphalopathie myoclonique néonatale. Rev Electroencephalogr Neurophysiol Clin. 1978;899–101. [in French]Google Scholar
Ohtahara, S, Ohtsuka, Y, Erba, G. Early epileptic encephalopathy with suppression-burst. In Jr., Engel J, Pedley, T, editors. Epilepsy: A Comprehensive Textbook. Volume 3. Philadelphia: Lippincott-Raven; 1998, pp. 2257–61.Google Scholar
Kato, M, Saitoh, S, Kamei, A, et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet. 2007;81:361–6.Google Scholar
Deprez, L, Weckhuysen, S, Holmgren, P, et al. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. Neurology. 2010 Sep 28;75(13):1159–65.Google Scholar
Saitsu, H, Kato, M, Mizuguchi, T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40:782–8.Google Scholar
Trump, N, McTague, A, Brittain, H, et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. J Med Genet. 2016 May;53(5):310–17.Google Scholar
Ohtahara, S, Ohtsuka, Y, Yamatogi, Y, Oka, E. The early-infantile epileptic encephalopathy with suppression-burst: developmental aspects. Brain Dev. 1987;9(4):371–6.Google Scholar
Schlumberger, E, Dulac, O, Pluoin, P. Early infantile syndrome(s) with suppression-burst: nosological consideration. In Roger, J, Bureau, M, Drave, C, et al., editors. Epileptic Syndromes of Infancy, Childhood and Adolescence, 2nd ed. London: John Libbey; 1992, pp. 35–42.Google Scholar
Backx, L, Ceulemans, B, Vermeesch, JR, et al. Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. Eur J Hum Genet. 2009;17:378–82.Google Scholar
Hansen, J, Snow, C, Tuttle, E, et al. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015;96:682–90.Google Scholar
Weckhuysen, S, Ivanovic, V, Hendrickx, R, et al. Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 2013;81:1697–703.Google Scholar
Okumura, A, Yamamoto, T, Kurahashi, H, et al. Epilepsies in children with 2q24.3 deletion/duplication. J Pediatr Epilepsy. 2015;4:8–16.Google Scholar
Ohba, C, Kato, M, Takahashi, N, et al. De novo KCNT1 mutations in early-onset epileptic encephalopathy. Epilepsia. 2015;56: e121–8.Google Scholar
Olischar, M, Shany, E, Aygün, C, et al. Amplitude-integrated electroencephalography in newborns with inborn errors of metabolism. Neonatology. 2012;102:203–11.Google Scholar
Nabbout, R, Soufflet, C, Plouin, P, et al. Pyridoxine dependent epilepsy: a suggestive electroclinical pattern. Arch Dis Child Fetal Neonatal Ed. 1999;81:F125–9.Google Scholar
Bok, LA, Maurits, NM, Willemsen, MA, et al. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. Epilepsia. 2010 Dec;51(12):2406–11.CrossRefGoogle ScholarPubMed
Mills, PB, Camuzeaux, SS, Footitt, EJ, et al. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain. 2014;137:1350–60.CrossRefGoogle ScholarPubMed
Schmitt, B, Baumgartner, M, Mills, PB, et al. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol. 2010 Jul;52(7):e133–42.Google Scholar
Kotulska, K, Jurkiewicz, E, Domańska-Pakieła, D, et al. Epilepsy in newborns with tuberous sclerosis complex. Eur J Paediatr Neurol. 2014;18:714–21.Google Scholar
Ikeno, M, Okumura, A, Abe, S, et al. Clinically silent seizures in a neonate with tuberous sclerosis. Pediatr Int. 2016;58:58–61.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×