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Neonatal multifocal clonic seizure

MedGen UID:
1713933
•Concept ID:
C5397826
•
Disease or Syndrome
HPO: HP:0032820

Definition

Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal multifocal clonic seizure

Professional guidelines

PubMed

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J
Eur J Hum Genet 2023 Sep;31(9):1023-1031. Epub 2023 Jun 21 doi: 10.1038/s41431-023-01410-z. PMID: 37344571Free PMC Article
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Nuovo S, Baglioni V, De Mori R, Tardivo S, Caputi C, Ginevrino M, Micalizzi A, Masuelli L, Federici G, Casella A, Lorefice E, Anello D, Tolve M, Farini D, Bertini E, Zanni G, Travaglini L, Vasco G, Sette C, Carducci C, Valente EM, Leuzzi V
Hum Mutat 2022 Jan;43(1):67-73. Epub 2021 Nov 15 doi: 10.1002/humu.24293. PMID: 34747546
The Clinical Utility of Inpatient Brain Magnetic Resonance Imaging in Children.
Tokatly Latzer I, Orbach R, Ben-Sira L, Mezad-Koursh D, Bachar Zipori A, Roth J, Constantini S, Fattal-Valevski A, Lubetzky R
J Child Neurol 2020 Oct;35(11):744-752. Epub 2020 Jun 10 doi: 10.1177/0883073820931264. PMID: 32517554

Recent clinical studies

Etiology

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J
Eur J Hum Genet 2023 Sep;31(9):1023-1031. Epub 2023 Jun 21 doi: 10.1038/s41431-023-01410-z. PMID: 37344571Free PMC Article
Clinical and electroencephalography characteristics of 45 patients with neonatal seizures.
Li L, Deng Y, Chen J, Xie L, Lan X, Hu Y, Hong S, Jiang L
Neurophysiol Clin 2023 Feb;53(1):102886. Epub 2023 Jun 7 doi: 10.1016/j.neucli.2023.102886. PMID: 37295040
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.
Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR, Fons C; BIO-KCNQ2-Spanish Study Group
Pediatr Neurol 2023 Jul;144:11-15. Epub 2023 Mar 9 doi: 10.1016/j.pediatrneurol.2023.03.004. PMID: 37099824
EEG and clinical characteristics of neonatal parechovirus encephalitis.
Sirsi D, Lowden A, Dolce A, Machie M, Thomas J, Joshi C
Epilepsy Res 2023 May;192:107143. Epub 2023 Apr 17 doi: 10.1016/j.eplepsyres.2023.107143. PMID: 37084674
Evaluation of the Neonate with Seizures.
Martin M, Querubin J, Hagen E, Lim J
Pediatr Ann 2020 Jul 1;49(7):e292-e298. doi: 10.3928/19382359-20200623-01. PMID: 32674166

Diagnosis

Clinical and electroencephalography characteristics of 45 patients with neonatal seizures.
Li L, Deng Y, Chen J, Xie L, Lan X, Hu Y, Hong S, Jiang L
Neurophysiol Clin 2023 Feb;53(1):102886. Epub 2023 Jun 7 doi: 10.1016/j.neucli.2023.102886. PMID: 37295040
EEG and clinical characteristics of neonatal parechovirus encephalitis.
Sirsi D, Lowden A, Dolce A, Machie M, Thomas J, Joshi C
Epilepsy Res 2023 May;192:107143. Epub 2023 Apr 17 doi: 10.1016/j.eplepsyres.2023.107143. PMID: 37084674
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR
Neurology 2023 Mar 21;100(12):e1234-e1247. Epub 2023 Jan 4 doi: 10.1212/WNL.0000000000206755. PMID: 36599696Free PMC Article
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
Li S, Yu S, Zhang Y, Wang Y, Jiang X, Wu C
Mol Genet Genomic Med 2023 Jan;11(1):e2092. Epub 2022 Nov 11 doi: 10.1002/mgg3.2092. PMID: 36367347Free PMC Article
Evaluation of the Neonate with Seizures.
Martin M, Querubin J, Hagen E, Lim J
Pediatr Ann 2020 Jul 1;49(7):e292-e298. doi: 10.3928/19382359-20200623-01. PMID: 32674166

Therapy

Clinical characteristics of KCNQ2 encephalopathy.
Kim HJ, Yang D, Kim SH, Won D, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Brain Dev 2021 Feb;43(2):244-250. Epub 2020 Sep 8 doi: 10.1016/j.braindev.2020.08.015. PMID: 32917465
Early and effective treatment of KCNQ2 encephalopathy.
Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR
Epilepsia 2015 May;56(5):685-91. Epub 2015 Apr 16 doi: 10.1111/epi.12984. PMID: 25880994
Epilepsy in children with periventricular leukomalacia.
Ekici B, Aydınlı N, Aydın K, Çalışkan M, Eraslan E, Özmen M
Clin Neurol Neurosurg 2013 Oct;115(10):2046-8. Epub 2013 Jul 23 doi: 10.1016/j.clineuro.2013.06.014. PMID: 23891141
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
Veerapandiyan A, Winchester SA, Gallentine WB, Smith EC, Kansagra S, Hyland K, Mikati MA
Epilepsy Behav 2011 Mar;20(3):494-501. Epub 2011 Feb 2 doi: 10.1016/j.yebeh.2010.12.046. PMID: 21292558
Epilepsy in peroxisomal diseases.
Takahashi Y, Suzuki Y, Kumazaki K, Tanabe Y, Akaboshi S, Miura K, Shimozawa N, Kondo N, Nishiguchi T, Terada K, Orii T
Epilepsia 1997 Feb;38(2):182-8. doi: 10.1111/j.1528-1157.1997.tb01095.x. PMID: 9048670

Prognosis

Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
Li W, Wu S, Xu H, Zhao X, Pan Y, Huang H, Lv H, Zhu X, Liu Y
Pediatr Res 2022 Feb;91(3):565-571. Epub 2021 Mar 31 doi: 10.1038/s41390-021-01468-9. PMID: 33790413
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Clinical characteristics of KCNQ2 encephalopathy.
Kim HJ, Yang D, Kim SH, Won D, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Brain Dev 2021 Feb;43(2):244-250. Epub 2020 Sep 8 doi: 10.1016/j.braindev.2020.08.015. PMID: 32917465
Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
Hanes I, Kozenko M, Callen DJ
Pediatr Neurol 2015 Dec;53(6):535-40. Epub 2015 Sep 12 doi: 10.1016/j.pediatrneurol.2015.09.002. PMID: 26483087
Neonatal encephalopathy following fetal distress. A clinical and electroencephalographic study.
Sarnat HB, Sarnat MS
Arch Neurol 1976 Oct;33(10):696-705. doi: 10.1001/archneur.1976.00500100030012. PMID: 987769

Clinical prediction guides

Expanding the spectrum of neonatal-onset AIFM1-associated disorders.
Zambon AA, Ghezzi D, Baldoli C, Cutillo G, Fontana K, Sofia V, Patricelli MG, Nasca A, Vinci S, Spiga I, Lamantea E, Fanelli GF, Sora MGN, Rovelli R, Poloniato A, Carrera P, Filippi M, Barera G
Ann Clin Transl Neurol 2023 Oct;10(10):1844-1853. Epub 2023 Aug 29 doi: 10.1002/acn3.51876. PMID: 37644805Free PMC Article
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.
Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR, Fons C; BIO-KCNQ2-Spanish Study Group
Pediatr Neurol 2023 Jul;144:11-15. Epub 2023 Mar 9 doi: 10.1016/j.pediatrneurol.2023.03.004. PMID: 37099824
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, Danhaive O, Carkeek K, Salpietro V, Weckhuysen S, Fedrigo M, Angelini A, Castellotti B, Lederer D, Benoit V, Raviglione F, Guerrini R, Dilena R, Cilio MR
Neurology 2023 Mar 21;100(12):e1234-e1247. Epub 2023 Jan 4 doi: 10.1212/WNL.0000000000206755. PMID: 36599696Free PMC Article
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R; ATP1A2/A3-collaborators
Brain 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052. PMID: 33880529
Infantile spasms in tuberous sclerosis complex.
Curatolo P, Seri S, Verdecchia M, Bombardieri R
Brain Dev 2001 Nov;23(7):502-7. doi: 10.1016/s0387-7604(01)00300-x. PMID: 11701245

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