MCID: SCN060
MIFTS: 14

Scn8a-Related Epilepsy with Encephalopathy

Aliases & Classifications for Scn8a-Related Epilepsy with Encephalopathy

MalaCards integrated aliases for Scn8a-Related Epilepsy with Encephalopathy:

Name: Scn8a-Related Epilepsy with Encephalopathy 25 43
Eiee13 25 43
Epileptic Encephalopathy, Early Infantile, 13 70
Early Infantile Epileptic Encephalopathy 13 43
Early-Infantile Epileptic Encephalopathy 13 25
Scn8a Encephalopathy 43

Characteristics:

GeneReviews:

25
Penetrance Penetrance for scn8a-related epilepsy with encephalopathy is unknown but assumed to be complete....

External Ids:

UMLS 70 C3281191

Summaries for Scn8a-Related Epilepsy with Encephalopathy

MedlinePlus Genetics : 43 SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.The seizures in SCN8A-related epilepsy with encephalopathy include involuntary muscle contractions that occur before age 1 (infantile spasms), partial or complete loss of consciousness (absence seizures), involuntary muscle twitches (myoclonic seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people with SCN8A-related epilepsy with encephalopathy have more than one type of seizure. The frequency of seizures in different individuals with this condition ranges from hundreds per day to fewer than one per month. In many individuals, the seizures are described as refractory because they do not respond to therapy with anti-epileptic medications.Other signs and symptoms of SCN8A-related epilepsy with encephalopathy include intellectual disability that may be mild to severe. Some affected infants have normal early development but begin to lose previously acquired skills (developmental regression) and have a gradual loss in thinking ability (cognitive decline) when epilepsy develops. Problems with movement are common, and about half of affected infants cannot perform intentional movements. Behavior disorders may also occur.In rare cases, individuals with this condition die unexpectedly for no known reason (sudden unexpected death in epilepsy or SUDEP).

MalaCards based summary : Scn8a-Related Epilepsy with Encephalopathy, also known as eiee13, is related to developmental and epileptic encephalopathy 13 and scn8a encephalopathy. An important gene associated with Scn8a-Related Epilepsy with Encephalopathy is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Affiliated tissues include cortex.

GeneReviews: NBK379665

Related Diseases for Scn8a-Related Epilepsy with Encephalopathy

Graphical network of the top 20 diseases related to Scn8a-Related Epilepsy with Encephalopathy:



Diseases related to Scn8a-Related Epilepsy with Encephalopathy

Symptoms & Phenotypes for Scn8a-Related Epilepsy with Encephalopathy

Drugs & Therapeutics for Scn8a-Related Epilepsy with Encephalopathy

Search Clinical Trials , NIH Clinical Center for Scn8a-Related Epilepsy with Encephalopathy

Genetic Tests for Scn8a-Related Epilepsy with Encephalopathy

Anatomical Context for Scn8a-Related Epilepsy with Encephalopathy

MalaCards organs/tissues related to Scn8a-Related Epilepsy with Encephalopathy:

40
Cortex

Publications for Scn8a-Related Epilepsy with Encephalopathy

Articles related to Scn8a-Related Epilepsy with Encephalopathy:

(show all 40)
# Title Authors PMID Year
1
Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy. 25 61
27791149 2016
2
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy. 25 61
26900580 2016
3
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 61 25
25725044 2015
4
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy. 61 25
26029160 2015
5
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 25 61
25239001 2014
6
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 25
26677014 2016
7
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. 25
26252990 2016
8
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy. 25
26220391 2015
9
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25
25914188 2015
10
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25
26235738 2015
11
In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25
26235739 2015
12
Electroclinical features of epileptic encephalopathy caused by SCN8A mutation. 25
25951352 2015
13
Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. 25
25046240 2015
14
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25
25818041 2015
15
Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation. 25
25799905 2015
16
SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. 25
25785782 2015
17
Large-scale discovery of novel genetic causes of developmental disorders. 25
25533962 2015
18
The phenotypic spectrum of SCN8A encephalopathy. 25
25568300 2015
19
Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. 25
25227913 2015
20
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. 25
24352161 2014
21
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 25
24874546 2014
22
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 25
24888894 2014
23
De novo mutations in epileptic encephalopathies. 25
23934111 2013
24
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 25
23708187 2013
25
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 25
23020937 2012
26
Interaction of voltage-gated sodium channel Nav1.6 (SCN8A) with microtubule-associated protein Map1b. 25
22474336 2012
27
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 25
22365152 2012
28
The genetics of Dravet syndrome. 25
21463275 2011
29
Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. 25
20491869 2010
30
Unusual consequences of status epilepticus in Dravet syndrome. 25
20172746 2010
31
SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. 25
19782004 2009
32
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. 25
16236810 2006
33
Obstructive sleep apnea is common in medically refractory epilepsy patients. 25
11061259 2000
34
Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. 25
9828131 1998
35
The phenotype of SCN8A developmental and epileptic encephalopathy. 61
30171078 2018
36
Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy. 61
28676574 2017
37
Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy. 61
28193882 2017
38
SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment. 61
27659738 2016
39
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. 61
27375106 2016
40
SCN8A-Related Epilepsy with Encephalopathy 61
27559564 2016

Variations for Scn8a-Related Epilepsy with Encephalopathy

Expression for Scn8a-Related Epilepsy with Encephalopathy

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GO Terms for Scn8a-Related Epilepsy with Encephalopathy

Sources for Scn8a-Related Epilepsy with Encephalopathy

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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
70 UMLS
71 UMLS via Orphanet
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