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  3. Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates

Data de publicação: Data Ahead of Print:

Autores da FMUP

  • Ana Isabel Ribeiro Vilan Ferreira Lopes

    Autor

Participantes de fora da FMUP

  • Pijpers, JA
  • Au, PYB
  • Weeke, LC
  • Vein, AA
  • Smit, LS
  • Jacobs, E
  • de Vries, LS
  • Steggerda, SJ
  • Cilio, MR
  • Carapancea, E
  • Cornet, MC
  • Appendino, JP
  • Peeters-Scholte, CMPCD

Unidades de investigação

Abstract

Purpose: Early recognition of seizures in neonates secondary to pathogenic variants in potassium or sodium channel coding genes is crucial, as these seizures are often resistant to commonly used anti-seizure medications but respond well to sodium channel blockers. Recently, a characteristic ictal amplitude-integrated electroencephalogram (aEEG) pattern was described in neonates with KCNQ2-related epilepsy. We report a similar aEEG pattern in seizures caused by SCN2A- and KCNQ3-pathogenic variants, as well as conventional EEG (cEEG) descriptions.Methods: International multicentre descriptive study, reporting clinical characteristics, aEEG and cEEG findings of 13 neonates with seizures due to pathogenic SCN2A- and KCNQ3-variants. As a comparison group, aEEGs and cEEGs of neonates with seizures due to hypoxic-ischemic encephalopathy (n = 117) and other confirmed genetic causes affecting channel function (n = 55) were reviewed. Results: In 12 out of 13 patients, the aEEG showed a characteristic sequence of brief onset with a decrease, followed by a quick rise, and then postictal amplitude attenuation. This pattern correlated with bilateral EEG onset attenuation, followed by rhythmic discharges ending in several seconds of post-ictal amplitude suppression. Apart from patients with KCNQ2-related epilepsy, none of the patients in the comparison groups had a similar aEEG or cEEG pattern.Discussion: Seizures in SCN2A- and KCNQ3-related epilepsy in neonates can usually be recognized by a characteristic ictal aEEG pattern, previously reported only in KCNQ2-related epilepsy, extending this unique feature to other channelopathies. Awareness of this pattern facilitates the prompt initiation of precision treatment with sodium channel blockers even before genetic results are available.

Dados da publicação

ISSN/ISSNe:
1059-1311, 1532-2688

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY  W.B. Saunders Ltd

Tipo:
Article
Páginas:
212-219

Citações Recebidas na Web of Science: 2

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Keywords

  • Neonates; Seizures; Channelopathy; EEG; Precision treatment; Anti -seizure medication; Amplitude -integrated EEG; KCNQ2; KCNQ3; SCN2A

Campos de estudo

Proyectos asociados

Effect of Allopurinol for Hypoxicischemic Brain Injury on Neurocognitive Outcome (ALBINO) - NCT03162653

Investigador Principal: Ana Isabel Ribeiro Vilan Ferreira Lopes

Ensaio Clínico Académico (ALBINO) . University Hospital Tuebingen . 2019

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