Potassium channels in epilepsy
R Köhling, J Wolfart - Cold Spring Harbor …, 2016 - perspectivesinmedicine.cshlp.org
This review attempts to give a concise and up-to-date overview on the role of potassium
channels in epilepsies. Their role can be defined from a genetic perspective, focusing on …
channels in epilepsies. Their role can be defined from a genetic perspective, focusing on …
Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy
X Jiang, M Lachance, E Rossignol - Progress in brain research, 2016 - Elsevier
GABAergic interneurons of the parvalbumin-positive fast-spiking basket cells subtype (PV
INs) are important regulators of cortical network excitability and of gamma oscillations …
INs) are important regulators of cortical network excitability and of gamma oscillations …
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …
mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid …
Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number
Mutations in SLC25A4 encoding the mitochondrial ADP/ATP carrier AAC1 are well-
recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations …
recognized causes of mitochondrial disease. Several heterozygous SLC25A4 mutations …
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli… - Neurology, 2016 - AAN Enterprises
Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously …
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously …
Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier pathway to severe infantile-onset encephalopathy
M Muona, R Ishimura, A Laari, Y Ichimura… - The American Journal of …, 2016 - cell.com
The ubiquitin fold modifier 1 (UFM1) cascade is a recently identified evolutionarily
conserved ubiquitin-like modification system whose function and link to human disease …
conserved ubiquitin-like modification system whose function and link to human disease …
Genetics of reflex seizures and epilepsies in humans and animals
Introduction Reflex seizures are epileptic events triggered by specific motor, sensory or
cognitive stimulation. This comprehensive narrative review focuses on the role of genetic …
cognitive stimulation. This comprehensive narrative review focuses on the role of genetic …
Unverricht‐Lundborg disease
A Crespel, E Ferlazzo, S Franceschetti… - Epileptic …, 2016 - Wiley Online Library
We first review the clinical presentation and current therapeutic approaches available for
treating Unverricht‐Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we …
treating Unverricht‐Lundborg disease (ULD), a progressive myoclonus epilepsy. Next, we …
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function
B Fischer, K Lüthy, J Paesmans… - Nature structural & …, 2016 - nature.com
Mutations in TBC1D24 cause severe epilepsy and DOORS syndrome, but the molecular
mechanisms underlying these pathologies are unresolved. We solved the crystal structure of …
mechanisms underlying these pathologies are unresolved. We solved the crystal structure of …
Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials
R Michelucci, E Pasini, P Riguzzi… - Epileptic …, 2016 - Wiley Online Library
Generalized motor seizures, usually tonic‐clonic, tonic‐vibratory, myoclonic or clonic, and
stimulus‐sensitive/action myoclonus are typical features of progressive myoclonus …
stimulus‐sensitive/action myoclonus are typical features of progressive myoclonus …