|
rs121918805
|
SCN1A;SCN1A-AS1;LOC102724058
|
Abnormal behavior
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel mutation V1366I was found in all probands and patients with psychiatric disorders of the three families.
|
17507202 |
2007 |
|
rs1553525325
|
SCN1A;SCN1A-AS1;LOC102724058
|
Abnormality of mouth size
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121918807
|
SCN1A;SCN1A-AS1;LOC102724058
|
Acute necrotizing encephalopathy
|
|
0.010 |
GeneticVariation |
BEFREE |
The third patient with R1575C had no seizures until the onset of ANE.
|
22309220 |
2012 |
|
rs121918799
|
SCN1A;SCN1A-AS1;LOC102724058
|
Ataxic
|
|
0.010 |
GeneticVariation |
BEFREE |
The novel T1174S missense mutation of this gene was detected segregating in a family with a heterozygous female child who presented with myoclonus and an abnormal electroencephalogram, and in her heterozygous mother, who had an ataxic migraine syndrome similar to that of her own mother.
|
18021921 |
2007 |
|
rs121918799
|
SCN1A;SCN1A-AS1;LOC102724058
|
Autism Spectrum Disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe a child with intractable myoclonic epilepsy and autism spectrum disorder who carries an inherited mutation in SCN1A (c.3521C>G, p.T1174S).
|
22550089 |
2013 |
|
rs794726827
|
SCN1A;SCN1A-AS1
|
Autistic Disorder
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918632
|
SCN1A;SCN1A-AS1;LOC102724058
|
Blindness
|
|
0.010 |
GeneticVariation |
BEFREE |
Results In both pedigrees, we identified SCN1A mutation p.F1499L, which has been previously associated with familial hemiplegic migraine type 3 and elicited repetitive daily blindness.
|
29145747 |
2018 |
|
rs12151636
|
SCN1A;SCN1A-AS1
|
Body mass index
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
The study validated gender-dependent association between genomic SCN1A rs3812718 polymorphism and TTR in CRC patients treated with adjuvant 5-FU-based chemotherapy.
|
23752739 |
2014 |
|
rs1553525325
|
SCN1A;SCN1A-AS1;LOC102724058
|
Congenital Dysplasia Of The Hip
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1559193213
|
SCN1A;SCN1A-AS1;LOC102724058
|
Death in childhood
|
TG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121917915
|
SCN1A;SCN1A-AS1;LOC102724058
|
Delayed speech and language development
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs794726775
|
SCN1A;SCN1A-AS1
|
Delayed speech and language development
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs3812718
|
SCN1A;SCN1A-AS1
|
Drug Resistant Epilepsy
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, our findings demonstrate an association of SCN1A IVS5-91 rs3812718 G>A polymorphism with AED responsiveness in monotherapy without evidence of an effect on drug-resistant epilepsy.
|
28144265 |
2017 |
|
rs11885663
|
SCN1A;SCN1A-AS1
|
Duration of sleep
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.
|
30846698 |
2019 |
|
rs12463754
|
SCN1A;SCN1A-AS1
|
Duration of sleep
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.
|
30804565 |
2019 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.
|
19400878 |
2009 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
SCN1A mutations and epilepsy.
|
15880351 |
2005 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
|
17561957 |
2007 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
|
18413471 |
2008 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
|
11359211 |
2001 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
|
10742094 |
2000 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Structure and function of voltage-gated sodium channels at atomic resolution.
|
24097157 |
2014 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
|
22719002 |
2012 |
|
rs1553549717
|
SCN1A;SCN1A-AS1
|
Dysmorphic features
|
G |
0.700 |
CausalMutation |
CLINVAR |
Timing of de novo mutagenesis--a twin study of sodium-channel mutations.
|
20879882 |
2010 |