Dataset Information

Epileptic seizures at multiple sclerosis onset and their role in disease progression.

ABSTRACT:

Background

Epileptic seizures can occur throughout the course of multiple sclerosis (MS) and are associated with increasing disability progression over time. However, there are no data on whether epileptic seizures at the onset of MS also lead to increasing disability.

Objective

To examine disease progression over time for MS patients with epileptic seizures at onset.

Methods

We analyzed the data of 30,713 patients on the German Multiple Sclerosis Register in a case-control study for more than 15 years. MS patients with seizures at onset were further divided into subgroups with polysymptomatic and monosymptomatic onset to assess the impact of additional symptoms on disease progression.

Results

A total of 46 patients had seizures as onset symptoms. Expanded Disability Status Scale (EDSS) within the first year was lower in the group with seizures at onset compared to controls (0.75 versus 1.6, p < 0.05), which changed until the last reported visit (3.11 versus 3.0). Both subgroups revealed increased EDSS progression over time compared to controls.

Conclusion

Epileptic seizures at MS onset are associated with a higher amount of disability progression over time. Additional longitudinal data are needed to further clarify the impact of seizures on the pathophysiology of MS disease progression.

SUBMITTER: Grothe M

PROVIDER: S-EPMC10559692 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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Publications

Epileptic seizures at multiple sclerosis onset and their role in disease progression.

Grothe Matthias M Ellenberger David D Rommer Paulus S PS Stahmann Alexander A Zettl Uwe K UK

Therapeutic advances in neurological disorders 20231006

<h4>Background</h4>Epileptic seizures can occur throughout the course of multiple sclerosis (MS) and are associated with increasing disability progression over time. However, there are no data on whether epileptic seizures at the onset of MS also lead to increasing disability.<h4>Objective</h4>To examine disease progression over time for MS patients with epileptic seizures at onset.<h4>Methods</h4>We analyzed the data of 30,713 patients on the German Multiple Sclerosis Register in a case-control ...[more]

PMID: 37808247

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Project description:BackgroundSCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations.MethodsTo identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth. A detailed clinical history was obtained.ResultsA heterozygous missense mutation of SCN8A was identified in the Chinese family. Six de novo mutations of SCN8A were detected in 6 sporadic patients with epilepsy. In the family, six members developed seizures within a few years after birth. Five of them had milder clinical performance, that they had normal cognition and developmental milestones, and seizure-free was achieved by mono-therapy. The other one affected member presented with refractory epilepsy and developmental regression. She died from sudden unexpected death in epilepsy (SUDEP) at 17-year-old. Clinical features of six sporadic patients with SCN8A mutations were diverse, ranging from severe epileptic encephalopathy to benign epilepsy with normal cognition. Seizures started at the mean age of 3.9 months (from 2 months to 6 months). Seizure-free was achieved in four of them by mono- or multi-antiepileptic drugs. Five of them demonstrated mild or severe psychomotor retardation, whereas the other one was normal in development and intelligence.ConclusionsOur findings extend the spectrum of SCN8A mutations and the clinical features of patients with SCN8A mutations. The majority of SCN8A mutations were de novo, inherited mutations from the heterozygous parents can also occur. The phenotypic spectrum of SCN8A mutation varied largely. Most affected patients manifested as refractory epilepsy and severe intellectual disability, only a small number of patients presented with milder clinical patterns. Additionally, our study confirmed that the same mutation can lead to different phenotypes.

Dataset Information

Epileptic seizures at multiple sclerosis onset and their role in disease progression.

Background

Objective

Methods

Results

Conclusion

Publications

Epileptic seizures at multiple sclerosis onset and their role in disease progression.

Similar Datasets

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