Scn1a Seizure Disorders disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SCN067 MIFTS: 22	Scn1a Seizure Disorders
Genes Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Scn1a Seizure Disorders

MalaCards integrated aliases for Scn1a Seizure Disorders:

Name: Scn1a Seizure Disorders ²⁴

Characteristics:

GeneReviews:

²⁴

Penetrance Scn1a seizure disorders show incomplete penetrance and variable expressivity....

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Summaries for Scn1a Seizure Disorders

MalaCards based summary : Scn1a Seizure Disorders is related to genetic epilepsy with febrile seizures plus and generalized epilepsy with febrile seizures plus, type 1. An important gene associated with Scn1a Seizure Disorders is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Developmental Biology. Affiliated tissues include temporal lobe, brain and testes, and related phenotype is normal.

GeneReviews: NBK1318

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Related Diseases for Scn1a Seizure Disorders

Diseases related to Scn1a Seizure Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)

#	Related Disease	Score	Top Affiliating Genes
1	genetic epilepsy with febrile seizures plus	30.0	SCN9A SCN1A
2	generalized epilepsy with febrile seizures plus, type 1	29.6	SCN1B SCN1A
3	epilepsy with generalized tonic-clonic seizures	29.6	SCN1B SCN1A
4	early myoclonic encephalopathy	29.4	SCN1B SCN1A
5	west syndrome	29.2	SCN1B SCN1A
6	visual epilepsy	29.1	SCN1B SCN1A
7	febrile seizures	29.0	SCN9A SCN1B SCN1A
8	lennox-gastaut syndrome	29.0	SCN9A SCN1B SCN1A
9	epileptic encephalopathy, early infantile, 6	29.0	SCN9A SCN1B SCN1A
10	generalized epilepsy with febrile seizures plus	29.0	SCN9A SCN1B SCN1A
11	generalized epilepsy with febrile seizures plus, type 2	10.1
12	febrile seizures, familial, 8	10.1
13	generalized epilepsy with febrile seizures plus, type 4	10.1
14	generalized epilepsy with febrile seizures plus, type 6	10.1
15	epilepsy, idiopathic generalized 10	10.1
16	generalized epilepsy with febrile seizures plus, type 8	10.1
17	generalized epilepsy with febrile seizures plus, type 7	10.1
18	generalized epilepsy with febrile seizures plus, type 9	10.1
19	generalized epilepsy with febrile seizures plus, type 10	10.1
20	sleep apnea	10.1
21	central sleep apnea	10.1
22	epilepsy with myoclonic-atonic seizures	10.1
23	seizure disorder	10.1
24	familial febrile seizures	9.9	SCN9A SCN1A
25	progressive familial heart block, type ia	9.9	SCN9A SCN1A
26	erythromelalgia	9.9	SCN9A SCN1A
27	paine syndrome	9.8	SCN9A SCN1A
28	somatoform disorder	9.8	SCN9A SCN1A
29	electroclinical syndrome	9.7	SCN1B SCN1A
30	epileptic encephalopathy, early infantile, 13	9.7	SCN1B SCN1A
31	early onset absence epilepsy	9.7	SCN1B SCN1A
32	epilepsy, nocturnal frontal lobe, 1	9.7	SCN1B SCN1A
33	adolescence-adult electroclinical syndrome	9.6	SCN1B SCN1A
34	infancy electroclinical syndrome	9.6	SCN1B SCN1A
35	childhood electroclinical syndrome	9.6	SCN1B SCN1A
36	benign neonatal seizures	9.6	SCN1B SCN1A
37	benign familial infantile epilepsy	9.6	SCN1B SCN1A
38	autosomal dominant nocturnal frontal lobe epilepsy	9.6	SCN1B SCN1A
39	gastroenteritis	9.5	SCN1B SCN1A
40	epilepsy, myoclonic juvenile	9.5	SCN1B SCN1A
41	temporal lobe epilepsy	9.5	SCN1B SCN1A
42	childhood absence epilepsy	9.5	SCN1B SCN1A
43	focal epilepsy	9.4	SCN1B SCN1A
44	migraine with or without aura 1	9.4	SCN9A SCN1A
45	epilepsy, familial temporal lobe, 5	9.3	SCN9A SCN1B SCN1A
46	epilepsy	9.3	SCN9A SCN1B SCN1A
47	neonatal period electroclinical syndrome	9.3	SCN9A SCN1B SCN1A
48	benign epilepsy with centrotemporal spikes	9.3	SCN9A SCN1B SCN1A
49	epilepsy, idiopathic generalized	9.3	SCN9A SCN1B SCN1A
50	early infantile epileptic encephalopathy	9.3	SCN9A SCN1B SCN1A

Graphical network of the top 20 diseases related to Scn1a Seizure Disorders:

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Symptoms & Phenotypes for Scn1a Seizure Disorders

MGI Mouse Phenotypes related to Scn1a Seizure Disorders:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal	MP:0002873	8.8	SCN1A SCN1B SCN9A

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Drugs & Therapeutics for Scn1a Seizure Disorders

Search Clinical Trials , NIH Clinical Center for Scn1a Seizure Disorders

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Genetic Tests for Scn1a Seizure Disorders

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Anatomical Context for Scn1a Seizure Disorders

MalaCards organs/tissues related to Scn1a Seizure Disorders:

⁴⁰

Temporal Lobe, Brain, Testes, Heart

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Publications for Scn1a Seizure Disorders

Articles related to Scn1a Seizure Disorders:

(show top 50) (show all 93)

#	Title	Authors	PMID	Year
1	Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases. ²⁴	Yang C...Jiang P	29500686	2018
2	Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. ²⁴	Devinsky O...Cannabidiol in Dravet Syndrome Study Group	28538134	2017
3	Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel. ²⁴	Wirrell EC...Berg AT	28284397	2017
4	Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. ²⁴	Aljaafari D...Andrade DM	28186331	2017
5	Five-year extended follow-up status of 10 patients with Dravet syndrome treated with fenfluramine. ²⁴	Ceulemans B...Lagae L	27197941	2016
6	Incidence of Dravet Syndrome in a US Population. ²⁴	Wu YW...Kuzniewicz MW	26438699	2015
7	Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications. ²⁴	Yoshitomi S...Yamamoto T	25843248	2015
8	The SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype. ²⁴	Meng H...Liao WP	25754450	2015
9	The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009. ²⁴	Bayat A...Moller RS	25778844	2015
10	Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. ²⁴	Gaily E...Lehesjoki AE	23808377	2013
11	Stiripentol in Dravet syndrome: results of a retrospective U.S. study. ²⁴	Wirrell EC...de Menezes MS	23848835	2013
12	CACNA1A variants may modify the epileptic phenotype of Dravet syndrome. ²⁴	Ohmori I...Matsui H	23103419	2013
13	Prevalence of SCN1A-related dravet syndrome among children reported with seizures following vaccination: a population-based ten-year cohort study. ²⁴	Verbeek NE...Brilstra EH	23762420	2013
14	Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. ²⁴	Goeggel Simonetti B...Lemke JR	23016767	2012
15	Dravet syndrome: seizure control and gait in adults with different SCN1A mutations. ²⁴	Rilstone JJ...Andrade DM	22780858	2012
16	Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. ²⁴	Brunklaus A...Zuberi SM	22719002	2012
17	Progressive gait deterioration in adolescents with Dravet syndrome. ²⁴	Rodda JM...Graham HK	22409937	2012
18	Successful use of fenfluramine as an add-on treatment for Dravet syndrome. ²⁴	Ceulemans B...Lagae L	22554283	2012
19	Safety and side effects of cannabidiol, a Cannabis sativa constituent. ²⁴	Bergamaschi MM...Crippa JA	22129319	2011
20	Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study. ²⁴	Nabbout R...Chiron C	21569025	2011
21	Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3. ²⁴	Okumura A...Shimizu T	21692795	2011
22	Genotype-phenotype associations in SCN1A-related epilepsies. ²⁴	Zuberi SM...Forbes GH	21248271	2011
23	Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. ²⁴	Ragona F...Dravet C	21269283	2011
24	A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome. ²⁴	Tro-Baumann B...Kluger G	21219303	2011
25	Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report. ²⁴	Takayanagi M...Ohtake M	20491869	2010
26	Sodium channel SCN1A and epilepsy: mutations and mechanisms. ²⁴	Escayg A...Goldin AL	20831750	2010
27	Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy--the Austrian experience. ²⁴	Dressler A...Feucht M	20598586	2010
28	Milder phenotype with SCN1A truncation mutation other than SMEI. ²⁴	Yu MJ...Liao WP	20630778	2010
29	Cannabinoid-induced apoptosis in immune cells as a pathway to immunosuppression. ²⁴	Rieder SA...Nagarkatti P	19457575	2010
30	Dravet syndrome and deep brain stimulation: seizure control after 10 years of treatment. ²⁴	Andrade DM...Wennberg RA	19919661	2010
31	Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene. ²⁴	Suls A...De Jonghe P	20484682	2010
32	Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. ²⁴	Depienne C...Leguern E	20522430	2010
33	Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. ²⁴	Azmanov DN...Sander JW	20562086	2010
34	NaV1.1 channels and epilepsy. ²⁴	Catterall WA...Oakley JC	20194124	2010
35	Levetiracetam-induced seizure aggravation associated with continuous spikes and waves during slow sleep in children with refractory epilepsies. ²⁴	Caraballo RH...De los Santos C	20483715	2010
36	Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. ²⁴	McIntosh AM...Berkovic SF	20447868	2010
37	Unusual consequences of status epilepticus in Dravet syndrome. ²⁴	Chipaux M...Nabbout R	20172746	2010
38	De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. ²⁴	Heron SE...Mulley JC	19589774	2010
39	SCN1A mutation screening in adult patients with Lennox-Gastaut syndrome features. ²⁴	Selmer KK...Brodtkorb E	19782004	2009
40	Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes. ²⁴	Riva D...Franceschetti S	19764027	2009
41	Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy. ²⁴	Iannetti P...Zara F	19303743	2009
42	SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. ²⁴	Marini C...Mulley JC	19400878	2009
43	A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. ²⁴	Livingston JH...Zuberi SM	19339291	2009
44	Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. ²⁴	Meador KJ...NEAD Study Group	19369666	2009
45	Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. ²⁴	Depienne C...LeGuern E	18930999	2009
46	Lacosamide: a new approach to target voltage-gated sodium currents in epileptic disorders. ²⁴	Curia G...Avoli M	19552484	2009
47	A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. ²⁴	Ohmori I...Matsui H	18755274	2008
48	Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome)--a nationwide questionnaire survey in Japan. ²⁴	Tanabe T...Maekawa K	18424028	2008
49	Coping with a child with Dravet syndrome: insights from families. ²⁴	Nolan K...Camfield PR	18344453	2008
50	A screening test for the prediction of Dravet syndrome before one year of age. ²⁴	Hattori J...Ohmori I	18076640	2008

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Genes for Scn1a Seizure Disorders

Genes related to Scn1a Seizure Disorders (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)
2	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)
3	SCN9A	Sodium Voltage-Gated Channel Alpha Subunit 9	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)

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Variations for Scn1a Seizure Disorders

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Expression for Scn1a Seizure Disorders

Search GEO for disease gene expression data for Scn1a Seizure Disorders.

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Pathways for Scn1a Seizure Disorders

Pathways related to Scn1a Seizure Disorders according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Activation of cAMP-Dependent PKA ⁶³ Show member pathways Activation of PKA through GPCR ⁶³ cAMP Pathway ⁶³ PKA Signaling ⁶³	12.89	SCN9A SCN1B SCN1A
2	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	12.82	SCN9A SCN1B SCN1A
3	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³ Hedgehog Signaling in Mammals ⁶³ Relaxin Pathway ⁶³ Signaling in Gap Junctions ⁶³	12.45	SCN9A SCN1B SCN1A
4	Cardiac conduction ⁶⁵ Show member pathways Classical Kir channels ⁶⁵ Ion homeostasis ⁶⁵ Ion transport by P-type ATPases ⁶⁵ Muscle contraction ⁶⁵ Phase 1 - inactivation of fast Na+ channels ⁶⁵ Phase 3 - rapid repolarisation ⁶⁵ Phase 4 - resting membrane potential ⁶⁵ Physiological factors ⁶⁵ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁵ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁵ Tandem pore domain potassium channels ⁶⁵ TWIK related potassium channel (TREK) ⁶⁵ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁵ TWIK-related spinal cord K+ channel (TRESK) ⁶⁵ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁵	12.27	SCN9A SCN1B SCN1A
5	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.09	SCN9A SCN1B SCN1A
6	Neuroscience ⁴	11.97	SCN9A SCN1B SCN1A
7	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.43	SCN9A SCN1B SCN1A
8	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.01	SCN9A SCN1B SCN1A
9	Interaction between L1 and Ankyrins ⁶⁵	10.28	SCN9A SCN1B SCN1A

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GO Terms for Scn1a Seizure Disorders

Cellular components related to Scn1a Seizure Disorders according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	axon	GO:0030424	9.43	SCN9A SCN1B SCN1A
2	intercalated disc	GO:0014704	9.37	SCN1B SCN1A
3	T-tubule	GO:0030315	9.32	SCN1B SCN1A
4	node of Ranvier	GO:0033268	9.16	SCN1B SCN1A
5	sodium channel complex	GO:0034706	8.96	SCN1B SCN1A
6	voltage-gated sodium channel complex	GO:0001518	8.8	SCN9A SCN1B SCN1A

Biological processes related to Scn1a Seizure Disorders according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.61	SCN9A SCN1B SCN1A
2	ion transmembrane transport	GO:0034220	9.46	SCN9A SCN1A
3	neuronal action potential	GO:0019228	9.4	SCN9A SCN1A
4	membrane depolarization during action potential	GO:0086010	9.37	SCN9A SCN1A
5	regulation of ion transmembrane transport	GO:0034765	9.33	SCN9A SCN1B SCN1A
6	cardiac muscle cell action potential involved in contraction	GO:0086002	9.32	SCN1B SCN1A
7	neuronal action potential propagation	GO:0019227	9.26	SCN1B SCN1A
8	sodium ion transport	GO:0006814	9.13	SCN9A SCN1B SCN1A
9	sodium ion transmembrane transport	GO:0035725	8.8	SCN9A SCN1B SCN1A

Molecular functions related to Scn1a Seizure Disorders according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated ion channel activity	GO:0005244	9.33	SCN9A SCN1B SCN1A
2	ion channel activity	GO:0005216	9.26	SCN9A SCN1A
3	sodium channel activity	GO:0005272	9.13	SCN9A SCN1B SCN1A
4	voltage-gated sodium channel activity	GO:0005248	8.8	SCN9A SCN1B SCN1A

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