Gastrointestinal and eating problems in SCN1A-related seizure disorders

Minderhoud, C.A.; Postma, Albert; Jansen, Floor E.; Verhoeven, J.; Schrijver, Jade; Goudswaard, J.; Andreae, George E; Otte, Willem M.; Braun, Kees P.J.; Brilstra, Eva H.

doi:10.1016/j.yebeh.2023.109361

Cited by 5 publications

(2 citation statements)

References 28 publications

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“…Gastrointestinal problems are commonly reported symptoms in DS [ 13 ]. A cross-section study found that more than one-third of patients with DS had dysphagia-related symptoms, such as impaired chewing, impaired swallowing, choking, and drooling; more than 40% of patients with DS had behavioral symptoms, such as picky eating and distracted during meals, and more than half of patients with DS had gastrointestinal symptoms, such as constipation and loss of appetite [ 79 ]. Stiripentol, a very effective AED against seizures in DS, was reported to be linked to worsening gastrointestinal symptoms in patients with DS [ 80 ].…”

Section: Dravet Syndrome (Ds)mentioning

confidence: 99%

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

Fan,

Yang,

Lin

et al. 2023

IJMS

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Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy, is a rare and drug-resistant form of developmental and epileptic encephalopathies, which is both debilitating and challenging to manage, typically arising during the first year of life, with seizures often triggered by fever, infections, or vaccinations. It is characterized by frequent and prolonged seizures, developmental delays, and various other neurological and behavioral impairments. Most cases result from pathogenic mutations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene, which encodes a critical voltage-gated sodium channel subunit involved in neuronal excitability. Precision medicine offers significant potential for improving DS diagnosis and treatment. Early genetic testing enables timely and accurate diagnosis. Advances in our understanding of DS’s underlying genetic mechanisms and neurobiology have enabled the development of targeted therapies, such as gene therapy, offering more effective and less invasive treatment options for patients with DS. Targeted and gene therapies provide hope for more effective and personalized treatments. However, research into novel approaches remains in its early stages, and their clinical application remains to be seen. This review addresses the current understanding of clinical DS features, genetic involvement in DS development, and outcomes of novel DS therapies.

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Section: Dravet Syndrome (Ds)mentioning

confidence: 99%

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

Fan,

Yang,

Lin

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

“…Gastrointestinal problems are commonly reported symptoms in DS [13]. A crosssection study found that more than one-third of patients with DS had dysphagia-related symptoms, such as impaired chewing, impaired swallowing, choking, and drooling; more than 40% of patients with DS had behavioral symptoms, such as picky eating and distracted during meals, and more than half of patients with DS had gastrointestinal symptoms, such as constipation and loss of appetite [79]. Stiripentol, a very effective AED against seizures in DS, was reported to be linked to worsening gastrointestinal symptoms in patients with DS [80].…”

Section: Digestivementioning

confidence: 99%

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

Fan,

Yang,

Lin

et al. 2023

Preprint

View full text Add to dashboard Cite

Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy, is a rare and drug-resistant form of developmental and epileptic encephalopathies, which is both debilitating and challenging to manage, typically arising during the first year of life, with seizures often triggered by fever, infections, or vaccinations. It is characterized by frequent and prolonged seizures, developmental delays, and various other neurological and behavioral impairments. Most cases result from pathogenic mutations in the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene, which encodes a critical voltage-gated sodium channel subunit involved in neuronal excitability. Precision medicine offers significant potential for improving DS diagnosis and treatment. Early genetic testing enables timely and accurate diagnosis. Advances in our understanding of DS's underlying genetic mechanisms and neurobiology have enabled the development of targeted therapies, such as gene therapy, offering more effective and less invasive treatment options for patients with DS. Targeted and gene therapies provide hope for more effective and personalized treatments. However, research into novel approaches remains in its early stages, and their clinical application remains to be seen. This review addresses the current understanding of clinical DS features, genetic involvement in DS development, and outcomes of novel DS therapies.

show abstract

Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes

Postma,

Minderhoud,

Otte

et al. 2024

Epilepsy & Behavior

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Gastrointestinal and eating problems in SCN1A-related seizure disorders

Cited by 5 publications

References 28 publications

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy

Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes

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