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Constitutive opening of the Kv7.2 pore activation gate causes -developmental encephalopathy.
Proc Natl Acad Sci U S A
December 2024
Department of Neuroscience, Section of Pharmacology, University of Naples Federico II, Naples 80131, Italy.
Pathogenic variants in encoding Kv7.2 voltage-gated potassium channel subunits cause developmental encephalopathies (-encephalopathies), both with and without epilepsy. We herein describe the clinical, in vitro, and in silico features of two encephalopathy-causing variants (A317T, L318V) in Kv7.
View Article and Find Full Text PDFVoltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.
Cells
October 2024
Institut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.
Developmental and Epileptic Encephalopathies (DEEs) represent a clinically and genetically heterogeneous group of rare and severe epilepsies. DEEs commonly begin early in infancy with frequent seizures of various types associated with intellectual disability and leading to a neurodevelopmental delay or regression. Disease-causing genomic variants have been identified in numerous genes and are implicated in over 100 types of DEEs.
View Article and Find Full Text PDFVoltage-gated potassium channels and genetic epilepsy.
Front Neurol
October 2024
Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Recent advances in exome and targeted sequencing have significantly improved the aetiological diagnosis of epilepsy, revealing an increasing number of epilepsy-related pathogenic genes. As a result, the diagnosis and treatment of epilepsy have become more accessible and more traceable. Voltage-gated potassium channels (Kv) regulate electrical excitability in neuron systems.
View Article and Find Full Text PDFSpreading depolarization (SD) is a slowly propagating wave of massive cellular depolarization that transiently impairs the function of affected brain regions. While SD typically arises as an isolated hemispheric event, we previously reported that reducing M-type potassium current (I ) by ablation of in forebrain excitatory neurons results in tightly coupled spontaneous bilateral seizure-SD complexes in the awake mouse cortex. Here we find that enhanced persistent Na current due to gain-of-function (GOF) mutations in (N1768D/+, hereafter D/+) produces a similar compound cortical excitability phenotype.
View Article and Find Full Text PDF[Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants].
Medicina (B Aires)
September 2024
Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. E-mail:
Since the first presentation at the IV Iberoamerican Academy of Neuropediatrics Congress in 1995, our group has studied self-limited infantile epilepsy (SeLIE), both familial and non-familial, corroborating that they belong to the same entity due to their clinical and electroencephalographic characteristics and excellent prognosis. Associations were found with paroxysmal dyskinesias and migraine, as well as with hemiplegic migraine, episodic ataxia and intellectual disability in atypical cases. Mutations in PRRT2 are the main cause of SeLIE, however, other genes, such as SCN2A, KCNQ2-3 and SCN8A, have been recognized.
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