Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures

Snezana Maljevic; Georgios Naros; Özlem Yalçin; Dragica Blazevic; Heidi Loeffler; Hande Çağlayan; Ortrud K. Steinlein; Holger Lerche

doi:10.1002/humu.21554

Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures

Human Mutation ◽

10.1002/humu.21554 ◽

2011 ◽

Vol 32 (10) ◽

pp. E2283-E2293 ◽

Cited By ~ 15

Author(s):

Snezana Maljevic ◽

Georgios Naros ◽

Özlem Yalçin ◽

Dragica Blazevic ◽

Heidi Loeffler ◽

...

Keyword(s):

Neonatal Seizures

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Long-term prognosis in children with neonatal seizures: A population-based study

Yearbook of Neurology and Neurosurgery ◽

10.1016/s0513-5117(08)79014-8 ◽

2008 ◽

Vol 2008 ◽

pp. 155-156

Author(s):

A. Verma

Keyword(s):

Population Based ◽

Neonatal Seizures ◽

Population Based Study ◽

Long Term Prognosis

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A Randomized Controlled Trial of Levetiracetam Compared with Phenobarbital in the Treatment of Neonatal Seizures

SSRN Electronic Journal ◽

10.2139/ssrn.3405581 ◽

2019 ◽

Cited By ~ 1

Author(s):

Cynthia Sharpe ◽

Gail E. Reiner ◽

Suzanne L. Davis ◽

Mark Nespeca ◽

Jeffrey J. Gold ◽

...

Keyword(s):

Randomized Controlled Trial ◽

Controlled Trial ◽

Neonatal Seizures ◽

Randomized Controlled

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Neonatal seizures

Rad Hrvatske akademije znanosti i umjetnosti Medicinske znanosti ◽

10.21857/ypn4oc1ln9 ◽

2020 ◽

Vol 543 (50-51) ◽

pp. 45-50

Author(s):

Vinko Vrdoljak ◽

Edi Paleka-Bosak ◽

Rebeka Ribičić ◽

Snježana Gverić-Ahmetašević

Keyword(s):

Neonatal Seizures

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Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures

Pediatric Research ◽

10.1038/s41390-021-01509-3 ◽

2021 ◽

Author(s):

Adam L. Numis ◽

Gilberto da Gente ◽

Elliott H. Sherr ◽

Hannah C. Glass

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

De Novo ◽

List Type ◽

Sequencing Analysis ◽

Neonatal Seizures ◽

Pathogenic Variants ◽

Targeted Analysis ◽

Whole Exome ◽

Epilepsy Gene

Abstract Background The contribution of pathogenic gene variants with development of epilepsy after acute symptomatic neonatal seizures is not known. Methods Case–control study of 20 trios in children with a history of acute symptomatic neonatal seizures: 10 with and 10 without post-neonatal epilepsy. We performed whole-exome sequencing (WES) and identified pathogenic de novo, transmitted, and non-transmitted variants from established and candidate epilepsy association genes and correlated prevalence of these variants with epilepsy outcomes. We performed a sensitivity analysis with genes associated with coronary artery disease (CAD). We analyzed variants throughout the exome to evaluate for differential enrichment of functional properties using exploratory KEGG searches. Results Querying 200 established and candidate epilepsy genes, pathogenic variants were identified in 5 children with post-neonatal epilepsy yet in only 1 child without subsequent epilepsy. There was no difference in the number of trios with non-transmitted pathogenic variants in epilepsy or CAD genes. An exploratory KEGG analysis demonstrated a relative enrichment in cell death pathways in children without subsequent epilepsy. Conclusions In this pilot study, children with epilepsy after acute symptomatic neonatal seizures had a higher prevalence of coding variants with a targeted epilepsy gene sequencing analysis compared to those patients without subsequent epilepsy. Impact We performed whole-exome sequencing (WES) in 20 trios, including 10 children with epilepsy and 10 without epilepsy, both after acute symptomatic neonatal seizures. Children with post-neonatal epilepsy had a higher burden of pathogenic variants in epilepsy-associated genes compared to those without post-neonatal epilepsy. Future studies evaluating this association may lead to a better understanding of the risk of epilepsy after acute symptomatic neonatal seizures and elucidate molecular pathways that are dysregulated after brain injury and implicated in epileptogenesis.

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Prevalence and predictors of adverse outcomes in neonatal seizures

Journal of Neonatal-Perinatal Medicine ◽

10.3233/npm-200499 ◽

2021 ◽

pp. 1-7

Author(s):

K. Famra ◽

P. Barta ◽

A. Aggarwal ◽

B.D. Banerjee

Keyword(s):

Birth Weight ◽

Low Birth Weight ◽

Very Low Birth Weight ◽

Birth Asphyxia ◽

Adverse Outcomes ◽

Neonatal Seizures ◽

Clinical Practices ◽

Inborn Errors ◽

Mortality And Morbidity ◽

Low Birth Weight Babies

OBJECTIVES: Neonatal seizures are significant cause of neonatal mortality and morbidity. Current study was planned to study prevalence of adverse outcomes in neonatal seizures and identify its predictors. METHODS: This observational descriptive study was carried out on 220 neonates with seizures. Neonates who succumbed to illness/ death before investigations, or whose maternal records were incomplete were excluded. Blood sugar, serum calcium, serum electrolytes, and USG skull were done in all patients. CT scan, MRI and inborn errors of metabolism profile were done as and when indicated. Adverse outcomes were defined as death, phenobarbitone non responders, or abnormal examination at discharge. Antenatal, perinatal and neonatal predictors of adverse outcomes in neonatal seizures were evaluated. RESULTS: Out of 220 neonates with seizures 76(34.5%) had adverse outcomes. Very low birth weight babies (≤1500 gm) [OR 1.27(CI 0.57–2.84)], microcephaly [OR 5.93 (CI 0.55–64.41)], Apgar score≤3 at 5 minutes [OR 11.28(CI 14.18–30.45)], seizure onset within 24 hours [OR 5.99(CI 12.43–14.78)], meningitis [OR 2.63(CI 0.08–6.39)], septicemia [OR1.22(CI 0.45–3.31)] and abnormal cranial USG [OR 7.95(CI 12.61–24.22)] were significant predictors of adverse outcomes in neonates with seizures. CONCLUSION: Prematurity, very low birth weight, birth asphyxia, meningitis, septicemia and abnormal USG could predict adverse outcomes in neonatal seizures. Improved antenatal and neonatal clinical practices may help reduce adverse outcomes in these patients.

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