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Article

1 Citations

1,316 Views

26 Pages

A New GlyT2 Variant Associated with Hyperekplexia

Jorge Sarmiento-Jiménez,
Raquel Felipe,
Enrique Núñez,
Alejandro Ferrando-Muñoz,
Cristina Benito-Muñoz,
Federico Gago,
Jesús Vázquez,
Emilio Camafeita,
Emma Clement and
Beatriz López-Corcuera
+ 1 author

Int. J. Mol. Sci.2025, 26(14), 6753;https://doi.org/10.3390/ijms26146753

14 July 2025

Hyperekplexia (OMIM 149400), a sensorimotor syndrome of perinatal clinical relevance, causes newborns to display an energic startle reflex in response to certain trivial stimuli. This condition can be lethal due to apnea episodes. The disease is caus...

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Article

26 Citations

4,749 Views

15 Pages

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations

Domenica I. Battaglia,
Maria Luigia Gambardella,
Stefania Veltri,
Ilaria Contaldo,
Giovanni Chillemi,
Chiara Veredice,
Michela Quintiliani,
Chiara Leoni,
Roberta Onesimo and
Giuseppe Zampino
+ 7 authors

Genes2021, 12(9), 1316;https://doi.org/10.3390/genes12091316

26 August 2021

Objective: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating BRAF mutations. Children with C...

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Review

18 Citations

14,945 Views

15 Pages

Stiff Person Spectrum Disorders—An Update and Outlook on Clinical, Pathophysiological and Treatment Perspectives

Benjamin Vlad,
Yujie Wang,
Scott D. Newsome and
Bettina Balint

Biomedicines2023, 11(9), 2500;https://doi.org/10.3390/biomedicines11092500

10 September 2023

Stiff person spectrum disorders (SPSD) are paradigm autoimmune movement disorders characterized by stiffness, spasms and hyperekplexia. Though rare, SPSD represent a not-to-miss diagnosis because of the associated disease burden and treatment implica...

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Feature Paper
Article

7 Citations

3,603 Views

25 Pages

A System for Assessing Dual Action Modulators of Glycine Transporters and Glycine Receptors

Diba Sheipouri,
Casey I. Gallagher,
Susan Shimmon,
Tristan Rawling and
Robert J. Vandenberg

Biomolecules2020, 10(12), 1618;https://doi.org/10.3390/biom10121618

30 November 2020

Reduced inhibitory glycinergic neurotransmission is implicated in a number of neurological conditions such as neuropathic pain, schizophrenia, epilepsy and hyperekplexia. Restoring glycinergic signalling may be an effective method of treating these p...

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