Crouch Gait in Dravet Syndrome

Crouch Gait in Dravet Syndrome

Investigators from Necker Enfants Malades Hospital, Sorbonne Paris Cite University, Raymond Poincare University, and Paris Descartes University studied motor neuron function in children with Dravet syndrome (DS).

Bibliografiset tiedot
Päätekijät:	Laura Black, Deborah Gaebler-Spira
Aineistotyyppi:	Artikkeli
Kieli:	English
Julkaistu:	Pediatric Neurology Briefs Publishers 2016-11-01
Sarja:	Pediatric Neurology Briefs
Aiheet:	dravet syndrome neurologic gait disorders nav1.1 voltage gated sodium channel
Linkit:	https://www.pediatricneurologybriefs.com/articles/3790

Samankaltaisia teoksia

Functional Investigation of a Neuronal Microcircuit in the CA1 Area of the Hippocampus Reveals Synaptic Dysfunction in Dravet Syndrome Mice
Tekijä: Yael Almog, et al.
Julkaistu: (2022-03-01)

Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome
Tekijä: Moran Rubinstein, et al.
Julkaistu: (2015-01-01)

Corticohippocampal circuit dysfunction in a mouse model of Dravet syndrome
Tekijä: Joanna Mattis, et al.
Julkaistu: (2022-02-01)

Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations
Tekijä: Lucia Mora-Jimenez, et al.
Julkaistu: (2021-09-01)

Phenotypes of Dravet Syndrome
Tekijä: Rebecca Garcia-Sosa, et al.
Julkaistu: (2016-08-01)

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients
Tekijä: Yishan Sun, et al.
Julkaistu: (2016-07-01)

Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment
Tekijä: Jens Schuster, et al.
Julkaistu: (2019-12-01)

Generation and Characterization of the <i>Drosophila melanogaster paralytic</i> Gene Knock-Out as a Model for Dravet Syndrome
Tekijä: Andrea Tapia, et al.
Julkaistu: (2021-11-01)

Mutação no gene scn1a e suas diferentes expressões fenotípicas - comparação de dois casos
Tekijä: Brenda Klemm Arci Mattos de Freitas Alves, et al.
Julkaistu: (2023-06-01)

Focal Scn1a knockdown induces cognitive impairment without seizures
Tekijä: Alex C. Bender, et al.
Julkaistu: (2013-06-01)

NaV1.1 is essential for proprioceptive signaling and motor behaviors
Tekijä: Cyrrus M Espino, et al.
Julkaistu: (2022-10-01)

Neurodevelopmental defects in Dravet syndrome Scn1a+/− mice: Targeting GABA-switch rescues behavioral dysfunctions but not seizures and mortality
Tekijä: Lara Pizzamiglio, et al.
Julkaistu: (2025-04-01)

Compromised function in the Nav1.2 Dravet syndrome mutation R1312T
Tekijä: Christoph Lossin, et al.
Julkaistu: (2012-09-01)

Cell-Adhesion Properties of β-Subunits in the Regulation of Cardiomyocyte Sodium Channels
Tekijä: Samantha C. Salvage, et al.
Julkaistu: (2020-07-01)

Dravet Variant SCN1AA1783V Impairs Interneuron Firing Predominantly by Altered Channel Activation
Tekijä: Nikolas Layer, et al.
Julkaistu: (2021-10-01)

Vasoactive intestinal peptide-expressing interneurons are impaired in a mouse model of Dravet syndrome
Tekijä: Kevin M Goff, et al.
Julkaistu: (2019-07-01)

Antinociceptive effects of AGAP, a recombinant neurotoxic polypeptide: Possible involvement of the tetrodotoxin-resistant sodium channels in small dorsal root ganglia neurons
Tekijä: Li Chunli, et al.
Julkaistu: (2016-12-01)

Recent developments regarding voltage-gated sodium channel blockers for the treatment of inherited and acquired neuropathic pain syndromes
Tekijä: Jonathan W. Theile, et al.
Julkaistu: (2011-10-01)

The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model
Tekijä: Valery Zayat, et al.
Julkaistu: (2023-01-01)

Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
Tekijä: Xiaoping Du, et al.
Julkaistu: (2023-12-01)

Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients
Tekijä: Mari Skystad Kvernebo, et al.
Julkaistu: (2025-01-01)

Insights into the voltage-gated sodium channel, NaV1.8, and its role in visceral pain perception
Tekijä: J. Westley Heinle, et al.
Julkaistu: (2024-05-01)

The Tarantula Venom Peptide Eo1a Binds to the Domain II S3-S4 Extracellular Loop of Voltage-Gated Sodium Channel NaV1.8 to Enhance Activation
Tekijä: Jennifer R. Deuis, et al.
Julkaistu: (2022-01-01)

Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance
Tekijä: Christopher D. Makinson, et al.
Julkaistu: (2014-08-01)

Extremely Potent Block of Bacterial Voltage-Gated Sodium Channels by µ-Conotoxin PIIIA
Tekijä: Rocio K. Finol-Urdaneta, et al.
Julkaistu: (2019-08-01)

Genetic and Functional Differences between Duplicated Zebrafish Genes for Human <i>SCN1A</i>
Tekijä: Wout J. Weuring, et al.
Julkaistu: (2022-01-01)

Effects of Mexiletine on a Race-specific Mutation in Nav1.5 Associated With Long QT Syndrome
Tekijä: Xin Wu, et al.
Julkaistu: (2022-07-01)

Patient with Dravet syndrome: A case report
Tekijä: Rukesh Yadav, et al.
Julkaistu: (2022-05-01)

Fenestropathy of Voltage-Gated Sodium Channels
Tekijä: Tamer M. Gamal El-Din, et al.
Julkaistu: (2022-02-01)

Conotoxins Targeting Neuronal Voltage-Gated Sodium Channel Subtypes: Potential Analgesics?
Tekijä: Jeffrey R. McArthur, et al.
Julkaistu: (2012-11-01)

Dataset of electrophysiological patch-clamp recordings of the effect of the compounds deltamethrin, ATx-II and β4-peptide on human cardiac Nav1.5 sodium channel gating properties
Tekijä: Sarah Thull, et al.
Julkaistu: (2020-08-01)

Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms
Tekijä: Zhixiong Ma, et al.
Julkaistu: (2022-06-01)

Molecular Surface of JZTX-V (β-Theraphotoxin-Cj2a) Interacting with Voltage-Gated Sodium Channel Subtype NaV1.4
Tekijä: Ji Luo, et al.
Julkaistu: (2014-07-01)

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability
Tekijä: Janelle Elizabeth O'Brien, et al.
Julkaistu: (2013-10-01)

Molecular determinants of μ-conotoxin KIIIA interaction with the human voltage-gated sodium channel NaV1.7
Tekijä: Ian H. Kimball, et al.
Julkaistu: (2023-03-01)

Abstract P-10: Comparison of Ion Coordination in Similar Selectivity Filters of Bacterial Sodium and Eukaryotic Calcium Voltage-Gated Channels
Tekijä: Ivan N. Terterov, et al.
Julkaistu: (2019-06-01)

Vaccinations and Dravet Syndrome
Tekijä: Christian M. Korff
Julkaistu: (2015-12-01)

Animal Toxins Can Alter the Function of Nav1.8 and Nav1.9
Tekijä: John Gilchrist, et al.
Julkaistu: (2012-08-01)

SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy
Tekijä: Zahra Zhu, et al.
Julkaistu: (2022-10-01)

Tetrodotoxin, a Candidate Drug for Nav1.1-Induced Mechanical Pain?
Tekijä: César Mattei
Julkaistu: (2018-02-01)