|
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 |
GeneticVariation
|
disease |
BEFREE |
SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders.
|
25568300 |
2015 |
|
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 |
The combination of a rare missense variant with a de novo mosaic deletion of a large part of the SCN8A gene suggests that other possible mechanisms for SCN8A mutations may cause epilepsy; loss of function, genetic modifiers and cellular interference may play a role.
|
26220391 |
2015 |
|
Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in SCN8A are associated with cognitive deficits and neuropsychiatric illness in humans and movement disorders in mice; however, a role for SCN8A (Na(v)1.6) in epilepsy has not been investigated.
|
17881658 |
2007 |
|
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Five variants in SCN8A were identified in five individuals with epilepsy.
|
27875746 |
2017 |
|
Epilepsy
|
0.900 |
Biomarker
|
disease |
BEFREE |
The identification of this new gain-of-function mutation of Nav1.6 supports the inclusion of SCN8A as a causative gene in infantile epilepsy, demonstrates a novel mechanism for hyperactivity of Nav1.6, and further expands the role of de novo mutations in severe epilepsy.
|
24874546 |
2014 |
|
Epilepsy
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We used targeted next-generation sequencing to identify SCN8A mutations in Chinese patients with epilepsy of unknown etiology and IDDs.
|
25785782 |
2015 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
The Scn8a(tm) (1768DMm) mouse model will be useful for investigation of the pathogenesis and therapy of early onset seizure disorders.
|
24288358 |
2014 |
|
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 |
Biomarker
|
disease |
BEFREE |
A small number of mutations have been found in SCN2A, SCN3A and SCN9A, and studies in the mouse suggest that SCN8A may also contribute to seizure disorders.
|
20351042 |
2010 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Because the clinical phenotype associated with SCN8A mutations has previously been identified only in a few patients with or without epileptic seizures, these data together with our results suggest that mutations in SCN8A can lead to early infantile epileptic encephalopathy with a broad phenotypic spectrum.
|
24352161 |
2014 |
|
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 |
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 |
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 |
Our results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy.
|
21156207 |
2011 |