Dravet syndrome

No Pathway Network information available for Dravet syndrome

Pathways in the Dravet syndrome SuperPath

#	Name	Source	Genes
1	Dravet syndrome	WikiPathways	AKT1 CALM1 CALM2 CALM3 CAMK2A CHD2 FGF13 HCN1 KCNA2 MAPK11 MAPKAP1 MLST8 MTOR NFKB1 PCDH19 PIK3CA PRKCA PRR5 PRR5L RICTOR SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4B SCN8A STXBP1 TNF (see all 30) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	FGF13	Fibroblast Growth Factor 13	Protein Coding	1
2	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	1
3	PRR5L	Proline Rich 5 Like	Protein Coding	1
4	KCNA2	Potassium Voltage-Gated Channel Subfamily A Member 2	Protein Coding	1
5	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	1
6	SCN2B	Sodium Voltage-Gated Channel Beta Subunit 2	Protein Coding	1
7	SCN3B	Sodium Voltage-Gated Channel Beta Subunit 3	Protein Coding	1
8	CHD2	Chromodomain Helicase DNA Binding Protein 2	Protein Coding	1
9	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
10	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	1
11	PCDH19	Protocadherin 19	Protein Coding	1
12	SCN3A	Sodium Voltage-Gated Channel Alpha Subunit 3	Protein Coding	1
13	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	1
14	HCN1	Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1	Protein Coding	1
15	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
16	MAPKAP1	MAPK Associated Protein 1	Protein Coding	1
17	PRR5	Proline Rich 5	Protein Coding	1
18	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
19	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
20	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
21	STXBP1	Syntaxin Binding Protein 1	Protein Coding	1
22	TNF	Tumor Necrosis Factor	Protein Coding	1
23	PRKCA	Protein Kinase C Alpha	Protein Coding	1
24	CALM2	Calmodulin 2	Protein Coding	1
25	CALM1	Calmodulin 1	Protein Coding	1
26	CALM3	Calmodulin 3	Protein Coding	1
27	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
28	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
29	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
30	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	1

Disorders associated with Dravet syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Generalized epilepsy with febrile seizures plus	Enrichment	FGF13, HCN1, SCN1A, SCN1B, SCN2A	10.08
2	Developmental and epileptic encephalopathy	Enrichment	HCN1, SCN1A, SCN2A, SCN3A, SCN8A, STXBP1	9.89
3	Epilepsy	Enrichment	CHD2, PCDH19, SCN1A, SCN2A, SCN3A, SCN8A	9.59
4	Undetermined early-onset epileptic encephalopathy	Enrichment	HCN1, KCNA2, SCN1A, SCN1B, SCN3A, SCN8A	8.68
5	Dravet syndrome	Enrichment	PCDH19, SCN1A, SCN1B, SCN2A	8.39
6	Benign epilepsy with centrotemporal spikes	Enrichment	CHD2, PCDH19, SCN1A, SCN1B, SCN2A	7.58
7	Centralopathic epilepsy	Enrichment	CHD2, PCDH19, SCN1A, SCN1B, SCN2A	7.47
8	West syndrome	Enrichment	KCNA2, SCN1A, SCN2A, SCN8A, STXBP1	7.42
9	Familial atrial fibrillation	Enrichment	SCN1B, SCN2B, SCN3B, SCN4B	6.70
10	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, SCN4B	6.29
11	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	6.27
12	Generalized epilepsy with febrile seizures plus, type 1	Enrichment	SCN1A, SCN1B	4.85
13	Autism	Enrichment	SCN1A, SCN2A, SCN8A, STXBP1	4.74
14	Developmental and epileptic encephalopathy 1	Enrichment	KCNA2, SCN1A, SCN8A	4.66
15	Brugada syndrome	Enrichment	SCN1B, SCN2B, SCN3B	4.61
16	Hemimegalencephaly	Enrichment	MTOR, PIK3CA	4.33
17	Self-limited infantile epilepsy	Enrichment	SCN2A, SCN8A	4.33
18	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	4.15
19	Focal epilepsy	Enrichment	SCN2A, SCN8A	4.01
20	Lennox-gastaut syndrome	Enrichment	CHD2, SCN1A	3.88
21	Complex neurodevelopmental disorder	Enrichment	CHD2, KCNA2, SCN2A, SCN8A	3.82
22	Myoclonic-atonic epilepsy	Enrichment	CHD2, SCN1A	3.77
23	Developmental and epileptic encephalopathy 14	Enrichment	SCN1A, SCN2A	3.77
24	Cowden syndrome	Enrichment	AKT1, PIK3CA	3.77
25	Meningioma	Enrichment	AKT1, PIK3CA	3.51
26	Sudden infant death syndrome	Enrichment	CALM2, SCN1A	3.20
27	Early infantile developmental and epileptic encephalopathy	Enrichment	SCN1B, SCN2A	3.15
28	Malaria	Enrichment	SCN8A, TNF	2.93
29	Strabismus	Enrichment	PCDH19, STXBP1	2.79
30	Autism spectrum disorder	Enrichment	CHD2, SCN2A, STXBP1	2.76
31	Long qt syndrome	Enrichment	CALM1, CALM2	2.68
32	Macrodactyly	Enrichment	PIK3CA	2.66
33	Proteus syndrome	Enrichment	AKT1	2.66
34	Brugada syndrome 5	Enrichment	SCN1B	2.66
35	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.66
36	Long qt syndrome 10	Enrichment	SCN4B	2.66
37	Cowden syndrome 5	Enrichment	PIK3CA	2.66
38	Developmental and epileptic encephalopathy 11	Enrichment	SCN2A	2.66
39	Atrial fibrillation, familial, 14	Enrichment	SCN2B	2.66
40	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.66
41	Intellectual developmental disorder, x-linked 110	Enrichment	FGF13	2.66
42	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.66
43	Myoclonus, familial, 2	Enrichment	SCN8A	2.66
44	Developmental and epileptic encephalopathy 62	Enrichment	SCN3A	2.66
45	Developmental and epileptic encephalopathy 90	Enrichment	FGF13	2.66
46	Atrial fibrillation, familial, 13	Enrichment	SCN1B	2.66
47	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.66
48	Developmental and epileptic encephalopathy 32	Enrichment	KCNA2	2.66
49	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.66
50	Episodic ataxia, type 9	Enrichment	SCN2A	2.66
51	Long qt syndrome 16	Enrichment	CALM3	2.66
52	Cowden syndrome 6	Enrichment	AKT1	2.66
53	Developmental and epileptic encephalopathy 24	Enrichment	HCN1	2.66
54	Benign familial infantile epilepsy	Enrichment	SCN2A	2.66
55	Brugada syndrome 7	Enrichment	SCN3B	2.66
56	Epilepsy, familial focal, with variable foci 4	Enrichment	SCN3A	2.66
57	Generalized epilepsy with febrile seizures plus, type 10	Enrichment	HCN1	2.66
58	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.66
59	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.66
60	Long qt syndrome 15	Enrichment	CALM2	2.66
61	Hypospadias	Enrichment	PIK3CA	2.66
62	Rare venous malformation	Enrichment	PIK3CA	2.66
63	Diaphragmatic eventration	Enrichment	PIK3CA	2.66
64	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.66
65	Rare combined vascular malformation	Enrichment	PIK3CA	2.66
66	Cavernous lymphangioma	Enrichment	PIK3CA	2.66
67	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.66
68	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.66
69	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.66
70	Macrodactyly of toe	Enrichment	PIK3CA	2.66
71	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA	2.37
72	Developmental and epileptic encephalopathy 9	Enrichment	PCDH19	2.35
73	Seizures, benign familial infantile, 3	Enrichment	SCN2A	2.35
74	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.35
75	Keratosis, seborrheic	Enrichment	PIK3CA	2.35
76	Sifrim-hitz-weiss syndrome	Enrichment	CHD2	2.35
77	Noonan syndrome 8	Enrichment	PIK3CA	2.35
78	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.35
79	Migraine, familial hemiplegic, 3	Enrichment	SCN1A	2.35
80	Cognitive impairment with or without cerebellar ataxia	Enrichment	SCN8A	2.35
81	Long qt syndrome 14	Enrichment	CALM1	2.35
82	Developmental and epileptic encephalopathy 6b	Enrichment	SCN1A	2.35
83	Cebalid syndrome	Enrichment	MTOR	2.35
84	Immunodeficiency 127	Enrichment	TNF	2.35
85	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	2.35
86	Benign familial neonatal epilepsy	Enrichment	SCN2A	2.35
87	Developmental and epileptic encephalopathy 30	Enrichment	SCN2A	2.35
88	Scn1a seizure disorders	Enrichment	SCN1A	2.35
89	Smith-kingsmore syndrome	Enrichment	MTOR	2.35
90	Seizures, benign familial infantile, 5	Enrichment	SCN8A	2.35
91	9q33.3q34.11 microdeletion syndrome	Enrichment	STXBP1	2.35
92	Malignant migrating partial seizures of infancy	Enrichment	SCN2A	2.35
93	Developmental and epileptic encephalopathy 76	Enrichment	SCN1A	2.35
94	Benign neonatal seizures	Enrichment	SCN2A	2.35
95	Common variable immunodeficiency 12	Enrichment	NFKB1	2.35
96	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, SCN8A	2.27
97	Spastic ataxia	Enrichment	SCN2A, STXBP1	2.22
98	Dystonia 12	Enrichment	SCN2A	2.18
99	Pompe disease, infantile-onset	Enrichment	PIK3CA	2.18
100	Psoriatic arthritis	Enrichment	TNF	2.18
101	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA	2.18
102	Generalized epilepsy with febrile seizures plus, type 2	Enrichment	SCN1A	2.18
103	Developmental and epileptic encephalopathy 13	Enrichment	SCN8A	2.18
104	Migraine without aura	Enrichment	TNF	2.18
105	Developmental and epileptic encephalopathy 94	Enrichment	CHD2	2.18
106	Keratoacanthoma	Enrichment	PIK3CA	2.18
107	Hereditary episodic ataxia	Enrichment	SCN2A	2.18
108	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA	2.05
109	Developmental and epileptic encephalopathy 4	Enrichment	STXBP1	2.05
110	Focal cortical dysplasia, type ii	Enrichment	MTOR	2.05
111	Developmental and epileptic encephalopathy 12	Enrichment	SCN2A	2.05
112	Developmental and epileptic encephalopathy 52	Enrichment	SCN1B	2.05
113	Color blindness	Enrichment	HCN1	2.05
114	Cerebrovascular disease	Enrichment	PIK3CA	2.05
115	Episodic ataxia	Enrichment	SCN2A	2.05
116	Familial cerebral cavernous malformations	Enrichment	PIK3CA	2.05
117	Hereditary progressive cardiac conduction defect	Enrichment	SCN1B	2.05
118	Familial or sporadic hemiplegic migraine	Enrichment	SCN1A	2.05
119	Cerebral malaria	Enrichment	TNF	2.05
120	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	2.05
121	Capillary malformations, congenital	Enrichment	PIK3CA	1.96
122	Convulsions, familial infantile, with paroxysmal choreoathetosis	Enrichment	SCN8A	1.96
123	Vascular dementia	Enrichment	TNF	1.96
124	Breast cancer	Enrichment	AKT1, PIK3CA	1.93
125	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	1.88
126	Cowden syndrome 1	Enrichment	PIK3CA	1.88
127	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.88
128	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.88
129	Lung squamous cell carcinoma	Enrichment	PIK3CA	1.88
130	Glycine encephalopathy	Enrichment	PCDH19	1.88
131	Nevus, epidermal	Enrichment	PIK3CA	1.81
132	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	SCN3A	1.81
133	Capillary malformation-arteriovenous malformation 1	Enrichment	PIK3CA	1.81
134	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.81
135	Gallbladder cancer	Enrichment	PIK3CA	1.81
136	Common variable immunodeficiency	Enrichment	NFKB1	1.81
137	Overgrowth syndrome	Enrichment	MTOR	1.81
138	Colorectal cancer	Enrichment	AKT1, PIK3CA	1.80
139	Glycine encephalopathy 1	Enrichment	PCDH19	1.76
140	Alternating hemiplegia of childhood	Enrichment	SCN2A	1.76
141	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.76
142	Arteriovenous malformation	Enrichment	PIK3CA	1.70
143	Adult hepatocellular carcinoma	Enrichment	PIK3CA	1.70
144	Bilateral perisylvian polymicrogyria	Enrichment	SCN3A	1.70
145	Ovarian cancer	Enrichment	AKT1, PIK3CA	1.68
146	Myopathy, x-linked, with excessive autophagy	Enrichment	PIK3CA	1.66
147	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.66
148	Polymicrogyria	Enrichment	SCN3A	1.66
149	Asthma	Enrichment	TNF	1.62
150	Lung non-small cell carcinoma	Enrichment	PIK3CA	1.62
151	Movement disease	Enrichment	SCN2A	1.62
152	Cardiac conduction defect	Enrichment	SCN1B	1.58
153	Lip and oral cavity carcinoma	Enrichment	PIK3CA	1.58
154	Alzheimer's disease	Enrichment	TNF	1.55
155	Microcephaly	Enrichment	SCN1A, STXBP1	1.52
156	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	1.49
157	Lynch syndrome	Enrichment	PIK3CA	1.49
158	Rare genetic intellectual disability	Enrichment	MTOR	1.49
159	Endometrial cancer	Enrichment	PIK3CA	1.34
160	Hepatocellular carcinoma	Enrichment	PIK3CA	1.32
161	Bladder cancer	Enrichment	PIK3CA	1.21
162	Prostate cancer	Enrichment	PIK3CA	1.21
163	Lung cancer	Enrichment	PIK3CA	1.16
164	Fetal akinesia deformation sequence 1	Enrichment	SCN8A	1.10
165	Systemic lupus erythematosus	Enrichment	TNF	1.08
166	Distal arthrogryposis	Enrichment	SCN8A	1.05
167	Gastric cancer	Enrichment	PIK3CA	1.04
168	Body mass index quantitative trait locus 11	Enrichment	SCN1A	0.98
169	Hypertelorism	Enrichment	PIK3CA	0.96
170	Primary ovarian insufficiency	Enrichment	RICTOR	0.91

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Dravet syndrome

Pathway Network for Dravet syndrome

Member Pathways for Dravet syndrome

Pathways in the Dravet syndrome SuperPath

Associated Genes for Dravet syndrome

Associated Disorders for Dravet syndrome

Disorders associated with Dravet syndrome SuperPath

STRING Interaction Network for Dravet syndrome

Sources for Dravet syndrome