Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy

Marina Trivisano, Giusy Carfì Pavia, Alessandro Ferretti, Lucia Fusco, Federico Vigevano, Nicola Specchio

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Abstract

Developmental and epileptic encephalopathy (DEE) due to SCN8A gene variants is characterized by drug-resistant early onset epilepsy associated with severe intellectual disability. Different seizure types have been reported, and a sequence of autonomic manifestations such as brady-/tachycardia, irregular breathing, and cyanosis. Nevertheless, an exhaustive video-polygraphic documentation is still lacking. In this study, we reviewed the ictal electroencephalograms (EEGs) of five patients with SCN8A-DEE followed-up at the Neuroscience Department at Bambino Gesù Children's Hospital in Rome. We identified generalized tonic seizure as the major seizure type at epilepsy onset. Seizure severity could vary from subtle to marked clinical manifestations, depending from the extent and groups of muscles involved and association with autonomic modifications. We found autonomic signs in 80% of seizures in our cases, and we were able to identify a stereotyped sequence of ictal events for most of seizures. Autonomic signs occurred in rapid sequence: flushing of the face, sometimes associated with sialorrhea, bradycardia, and hypopnea appeared within the first 1-2 s. Tachycardia, polypnea, perioral cyanosis, and pallor occurred later in the course of the seizure. Generalized tonic seizures are rarely described in other genetic epileptic conditions of early infancy because of ion channel mutations, such as in DEE due to KCNQ2 or SCN2A gene mutations, where seizures are most frequently reported as focal to bilateral tonic. Therefore, generalized symmetric tonic seizures with autonomic signs can be considered a clinical hallmark for diagnosis of SCN8A-related DEE and relevant for therapeutic implications.

Original languageEnglish
Pages (from-to)219-223
Number of pages5
JournalEpilepsy and Behavior
Volume96
DOIs
Publication statusPublished - Jul 2019

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Brain Diseases
Seizures
Cyanosis
Tachycardia
Epilepsy
Stroke
Sialorrhea
Pallor
Mutation
Bradycardia
Neurosciences
Ion Channels
Intellectual Disability
Documentation
Genes
Electroencephalography
Respiration

Cite this

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title = "Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy",
abstract = "Developmental and epileptic encephalopathy (DEE) due to SCN8A gene variants is characterized by drug-resistant early onset epilepsy associated with severe intellectual disability. Different seizure types have been reported, and a sequence of autonomic manifestations such as brady-/tachycardia, irregular breathing, and cyanosis. Nevertheless, an exhaustive video-polygraphic documentation is still lacking. In this study, we reviewed the ictal electroencephalograms (EEGs) of five patients with SCN8A-DEE followed-up at the Neuroscience Department at Bambino Ges{\`u} Children's Hospital in Rome. We identified generalized tonic seizure as the major seizure type at epilepsy onset. Seizure severity could vary from subtle to marked clinical manifestations, depending from the extent and groups of muscles involved and association with autonomic modifications. We found autonomic signs in 80{\%} of seizures in our cases, and we were able to identify a stereotyped sequence of ictal events for most of seizures. Autonomic signs occurred in rapid sequence: flushing of the face, sometimes associated with sialorrhea, bradycardia, and hypopnea appeared within the first 1-2 s. Tachycardia, polypnea, perioral cyanosis, and pallor occurred later in the course of the seizure. Generalized tonic seizures are rarely described in other genetic epileptic conditions of early infancy because of ion channel mutations, such as in DEE due to KCNQ2 or SCN2A gene mutations, where seizures are most frequently reported as focal to bilateral tonic. Therefore, generalized symmetric tonic seizures with autonomic signs can be considered a clinical hallmark for diagnosis of SCN8A-related DEE and relevant for therapeutic implications.",
author = "Marina Trivisano and Pavia, {Giusy Carf{\`i}} and Alessandro Ferretti and Lucia Fusco and Federico Vigevano and Nicola Specchio",
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T1 - Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy

AU - Trivisano, Marina

AU - Pavia, Giusy Carfì

AU - Ferretti, Alessandro

AU - Fusco, Lucia

AU - Vigevano, Federico

AU - Specchio, Nicola

N1 - Copyright © 2019 Elsevier Inc. All rights reserved.

PY - 2019/7

Y1 - 2019/7

N2 - Developmental and epileptic encephalopathy (DEE) due to SCN8A gene variants is characterized by drug-resistant early onset epilepsy associated with severe intellectual disability. Different seizure types have been reported, and a sequence of autonomic manifestations such as brady-/tachycardia, irregular breathing, and cyanosis. Nevertheless, an exhaustive video-polygraphic documentation is still lacking. In this study, we reviewed the ictal electroencephalograms (EEGs) of five patients with SCN8A-DEE followed-up at the Neuroscience Department at Bambino Gesù Children's Hospital in Rome. We identified generalized tonic seizure as the major seizure type at epilepsy onset. Seizure severity could vary from subtle to marked clinical manifestations, depending from the extent and groups of muscles involved and association with autonomic modifications. We found autonomic signs in 80% of seizures in our cases, and we were able to identify a stereotyped sequence of ictal events for most of seizures. Autonomic signs occurred in rapid sequence: flushing of the face, sometimes associated with sialorrhea, bradycardia, and hypopnea appeared within the first 1-2 s. Tachycardia, polypnea, perioral cyanosis, and pallor occurred later in the course of the seizure. Generalized tonic seizures are rarely described in other genetic epileptic conditions of early infancy because of ion channel mutations, such as in DEE due to KCNQ2 or SCN2A gene mutations, where seizures are most frequently reported as focal to bilateral tonic. Therefore, generalized symmetric tonic seizures with autonomic signs can be considered a clinical hallmark for diagnosis of SCN8A-related DEE and relevant for therapeutic implications.

AB - Developmental and epileptic encephalopathy (DEE) due to SCN8A gene variants is characterized by drug-resistant early onset epilepsy associated with severe intellectual disability. Different seizure types have been reported, and a sequence of autonomic manifestations such as brady-/tachycardia, irregular breathing, and cyanosis. Nevertheless, an exhaustive video-polygraphic documentation is still lacking. In this study, we reviewed the ictal electroencephalograms (EEGs) of five patients with SCN8A-DEE followed-up at the Neuroscience Department at Bambino Gesù Children's Hospital in Rome. We identified generalized tonic seizure as the major seizure type at epilepsy onset. Seizure severity could vary from subtle to marked clinical manifestations, depending from the extent and groups of muscles involved and association with autonomic modifications. We found autonomic signs in 80% of seizures in our cases, and we were able to identify a stereotyped sequence of ictal events for most of seizures. Autonomic signs occurred in rapid sequence: flushing of the face, sometimes associated with sialorrhea, bradycardia, and hypopnea appeared within the first 1-2 s. Tachycardia, polypnea, perioral cyanosis, and pallor occurred later in the course of the seizure. Generalized tonic seizures are rarely described in other genetic epileptic conditions of early infancy because of ion channel mutations, such as in DEE due to KCNQ2 or SCN2A gene mutations, where seizures are most frequently reported as focal to bilateral tonic. Therefore, generalized symmetric tonic seizures with autonomic signs can be considered a clinical hallmark for diagnosis of SCN8A-related DEE and relevant for therapeutic implications.

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