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Cited by 83Epilepsy research and treatmentDiet and metabolism studiesPharmacological Effects and Toxicity Studies

Dravet syndrome: an overview.

Open access
Anwar, Arsalan, Saleem, Sidra, Patel, Urvish K, Arumaithurai, Kogulavadanan, Malik, Preeti·2019·Cureus
DOI 10.7759/cureus.5006PMC PMC6713249
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Abstract

Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy (SMEI), is one of the rare early childhood intractable epileptic encephalopathies associated with pleomorphic seizure activity, cognitive decline, motor, and behavioral abnormalities. The convulsive seizure is the most common type seen in DS. After the first episode of seizure-like activity, behavioral disorders and cognitive decline are progressive and long-lasting. The most common etiology identified in patients with DS is a de-novo genetic mutation alpha-1 subunit of voltage-gated calcium channel gene (SCN1A). DS is diagnosed clinically and if unclear, genetic testing is recommended. DS treatment options include anti-epileptic drugs and cannabinoids; ketogenic diet therapy and surgical options such as the deep brain and vagal nerve stimulation. Due to drug-refractory epilepsy in DS, many more therapies are being investigated to increase the longevity of patients.

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  • Genetic ablation of tau, even by 50% by inactivation of a single Mapt allele, reduces epileptic activity, high mortality rates, and cognitive deficits in the Scn1a mouse model of Dravet syndrome.

    “Genetic ablation of tau, even by 50% by inactivation of a single Mapt allele, also reduces epileptic activity, high mortality rates, and cognitive deficits in the Scn1a mouse model of Dravet syndrome, a severe and intractable childhood epilepsy that is caused by mutations in the SCN1A gene and can lead to autism (Catterall et al., 2010; Li et al., 2011; Gheyara et al., 2014; Anwar et al., 2019; Ta”

    From Tauopathy and Epilepsy Comorbidities and Underlying Mechanisms (2022) · cites this paper as Anwar et al., 2019

    The Abstract and Introduction and background describe Dravet syndrome as an early-childhood, intractable epilepsy associated with SCN1A mutations and cognitive impairment. Our copy does not report tau or Mapt ablation in a Scn1a mouse model, or reductions in seizures, mortality, or cognitive deficits from that intervention. It also does not substantiate the sentence’s autism assertion. (LLM, conf=0.85)

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Cited by

Sorted by citations

Authors
Anwar, A., Saleem, S., Patel, U. K., Arumaithurai, K., & Malik, P.
Affiliations
Mayo Clinic (US)
Corresponding author
Malik, Preeti
ORCID
Venue
Cureus
Publisher
Springer Science and Business Media LLC
Published
2019-06-26
Volume
11
Issue
6
Pages
e5006-e5006
ISSN
2168-8184 (ISSN-L)
DOI
10.7759/cureus.5006
PMC
PMC6713249
OpenAlex
W2954828170
Cited by
83
References
2
Citations by year
2026: 6 · 2025: 11 · 2024: 15 · 2023: 16 · 2022: 14 · 2021: 15 · 2020: 5 · 2018: 1
FWCI
1.43
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • Cureus (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
  • Health Sciences › Medicine › Physiology › Diet and metabolism studies
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Pharmacological Effects and Toxicity Studies
Keywords
Dravet syndrome, drug-resistant epilepsy, SCN1A mutations, voltage-gated calcium channels, cognitive decline, behavioral abnormalities, convulsions, genetic testing, antiepileptic drugs, cannabinoids, ketogenic diet, vagus nerve stimulation, deep brain stimulation

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