Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
•These data provide further insights into the mechanism of SCN8A-related epilepsy and reveal subtle but potentially important distinction of functional characterization performed in the human vs. rodent channels.
|
31715021 |
2020 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the voltage-gated sodium channel gene SCN8A cause a broad range of human diseases, including epilepsy, intellectual disability, and ataxia.
|
31605437 |
2019 |
Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
SCN8A is the third most prevalent early onset epileptic encephalopathy gene and is associated with two modes of onset of epilepsy.
|
31026061 |
2019 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of a precise genetic etiology can direct physicians to (i) prescribe treatments that correct specific metabolic defects (e.g., the ketogenic diet for GLUT1 deficiency, or pyridoxine for pyridoxine-dependent epilepsies); (ii) avoid antiepileptic drugs (AEDs) that can aggravate the pathogenic defect (e.g., sodium channel blocking drugs in SCN1A-related Dravet syndrome), or (iii) select AEDs that counteract the functional disturbance caused by the gene mutation (e.g., sodium channel blockers for epilepsies due to gain-of-function SCN8A mutations).
|
30870728 |
2019 |
Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
In this study, we aimed to provide further insight on the spectrum of milder SCN8A-related epilepsies.
|
30968951 |
2019 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Developmental and epileptic encephalopathy (DEE) due to SCN8A gene variants is characterized by drug-resistant early onset epilepsy associated with severe intellectual disability.
|
31174070 |
2019 |
Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
To characterize a cohort of patients with SCN8A-related epilepsy and to perform analyses to identify correlations involving the acquisition of neurodevelopmental skills.
|
31335965 |
2019 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We first studied the biophysical and neurophysiological consequences of four mutations in the human Na+ channel gene SCN8A causing either mild (E1483K) or severe epilepsy (R1872W), or intellectual disability and autism without epilepsy (R1620L, A1622D).
|
30615093 |
2019 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SCN8A variants were identified via an exome-based panel of epilepsy-associated genes for next generation sequencing (NGS), or via exome sequencing.
|
31402610 |
2019 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified three de novo epilepsy-related gene mutations, including missense mutations of SCN1A (c. 5399 T > A; p. Val1800Asp), SCN8A (c. 2371 G > T; p. Val791Phe), and CLCN2 (c. 481 G > A; p. Gly161Ser), from three patients, separately.
|
31054517 |
2019 |
Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
These findings point to Scn8a as a promising therapeutic target for epilepsy and raise the possibility that aberrant overexpression of Scn8a in limbic structures may contribute to some epilepsies, including temporal lobe epilepsy.
|
29317669 |
2018 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We tested the hypothesis of SUDEP as the main cause of death in SCN8A-related epilepsies by reviewing all the currently reported patients with SCN8A.
|
29677576 |
2018 |
Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes SCN1A, SCN2A, and SCN8A, encoding the Na<sup>+</sup> channel pore-forming (α) subunits Nav1.1, 1.2, and 1.6, respectively, and SCN1B, encoding the accessory subunit β<sub>1</sub> , are established causes of genetic epilepsies.
|
29466837 |
2018 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report herein a four-year-old boy presenting with severe non-epileptic abnormal movements, of possibly antenatal onset, progressively associated with pharmacoresistant epilepsy and regression, associated with a de novo heterozygous missense mutation of SCN8A.
|
30078772 |
2018 |
Epilepsy
|
0.900 |
Biomarker
|
disease |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay.
|
29432985 |
2018 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we demonstrate the feasibility of a more comprehensive approach using high-throughput screening to identify inhibitors of a gain-of-function mutation in the SCN8A gene associated with severe pediatric epilepsy.
|
29574705 |
2018 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Five variants in SCN8A were identified in five individuals with epilepsy.
|
27875746 |
2017 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Six de novo mutations of SCN8A were detected in 6 sporadic patients with epilepsy.
|
28923014 |
2017 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558).
|
27659738 |
2016 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In addition, the same SCN8A variant (c.5630A > G, p. (Asn1877Ser)) is also found in patients with epilepsy and developmental delay highlighting the phenotypic variability and the possible role of other protective genetic factors.
|
27210545 |
2016 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Herein, we describe 4 patients with a missense SCN8A mutation and epilepsy who all show a remarkably good response on high doses of phenytoin and loss of seizure control when phenytoin medication was reduced, while side effects were relatively mild.
|
26252990 |
2016 |
Epilepsy
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes.
|
26677014 |
2016 |
Epilepsy
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes.
|
26677014 |
2016 |
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders.
|
25568300 |
2015 |