Infancy Electroclinical Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: INF033 MIFTS: 23	Infancy Electroclinical Syndrome Categories: Neuronal diseases
Genes Tissues Related diseases Pathways Expand all tables

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Aliases & Classifications for Infancy Electroclinical Syndrome

MalaCards integrated aliases for Infancy Electroclinical Syndrome:

Name: Infancy Electroclinical Syndrome ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050703

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Summaries for Infancy Electroclinical Syndrome

Disease Ontology : ¹² An electroclinical syndrome with onset in infancy occurring between birth and one year of age.

MalaCards based summary : Infancy Electroclinical Syndrome is related to epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp and benign familial infantile epilepsy. An important gene associated with Infancy Electroclinical Syndrome is PRRT2 (Proline Rich Transmembrane Protein 2), and among its related pathways/superpathways are Developmental Biology and Cardiac conduction. Affiliated tissues include heart and temporal lobe, and related phenotypes are behavior/neurological and growth/size/body region

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Related Diseases for Infancy Electroclinical Syndrome

Diseases related to Infancy Electroclinical Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 102)

#	Related Disease	Score	Top Affiliating Genes
1	epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	32.2	SCN2A PRRT2
2	benign familial infantile epilepsy	30.2	STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
3	west syndrome	29.2	STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1B
4	stxbp1 encephalopathy	10.4	STXBP1 CDKL5
5	myoclonic epilepsy of infancy	10.4	SCN8A SCN1A
6	genetic epilepsy with febrile seizures plus	10.4	SCN2A SCN1A
7	febrile infection-related epilepsy syndrome	10.4	SCN1A PCDH19
8	paroxysmal choreoathetosis	10.4	PRRT2 PCDH19
9	convulsions, familial infantile, with paroxysmal choreoathetosis	10.4	SCN8A PRRT2
10	kcnq2-related disorders	10.4	KCNQ3 KCNQ2
11	sporadic hemiplegic migraine	10.3	SCN1A ATP1A2
12	seizures, benign familial infantile, 5	10.3	SCN8A KCNQ3
13	seizures, benign familial neonatal, 2	10.3	KCNQ3 KCNQ2
14	reflex epilepsy	10.3	SCN2A SCN1A
15	aicardi syndrome	10.3	PCDH19 CDKL5 ARX
16	chromosome 16p11.2 deletion syndrome	10.3	PRRT2 PCDH19
17	paroxysmal dyskinesia	10.3	SCN8A PRRT2 PCDH19
18	convulsions benign familial neonatal dominant form	10.3	KCNQ3 KCNQ2
19	low-grade astrocytoma	10.3	SCN8A SCN2A SCN1A
20	trigeminal nerve disease	10.3	SCN8A SCN2A SCN1A
21	verbal auditory agnosia	10.3	SCN1B ARX
22	ceroid lipofuscinosis, neuronal, 4b, autosomal dominant	10.3	KCNQ3 KCNQ2
23	developmental and epileptic encephalopathy 4	10.3	STXBP1 CDKL5
24	hyperkalemic periodic paralysis	10.3	SCN8A SCN2A SCN1A
25	progressive familial heart block, type ia	10.3	SCN8A SCN1A
26	developmental and epileptic encephalopathy 7	10.3	KCNT1 KCNQ3 KCNQ2
27	erythromelalgia	10.3	SCN8A SCN2A SCN1A
28	febrile seizures, familial, 6	10.3	SCN1B SCN1A
29	coffin-siris syndrome 4	10.3	SCN8A SCN2A
30	seizures, benign familial infantile, 3	10.3	SCN2A KCNQ2 ATP1A2
31	migraine, familial hemiplegic, 2	10.3	SCN1A PRRT2 ATP1A2
32	migraine, familial hemiplegic, 1	10.3	SCN1A PRRT2 ATP1A2
33	neuronal migration disorders	10.3	SCN1A ATP1A2 ARX
34	episodic kinesigenic dyskinesia 1	10.3	PRRT2 KCNQ2 GABRA1
35	febrile seizures, familial, 5	10.2	SCN2A SCN1B SCN1A
36	familial hemiplegic migraine	10.2	SCN1A PRRT2 ATP1A2
37	alternating hemiplegia of childhood	10.2	SCN1A PRRT2 ATP1A2
38	generalized epilepsy with febrile seizures plus, type 1	10.2	SCN1B SCN1A
39	generalized epilepsy with febrile seizures plus, type 7	10.2	SCN8A SCN1B SCN1A
40	status epilepticus	10.2	SCN1A PCDH19 KCNQ2
41	epilepsy, familial temporal lobe, 5	10.2	SCN1B SCN1A
42	specific developmental disorder	10.2	SCN1A POMC PCDH19 CDKL5
43	familial or sporadic hemiplegic migraine	10.2	SCN1A PRRT2 ATP1A2
44	migraine, familial hemiplegic, 3	10.2	SCN2A SCN1A PRRT2 ATP1A2
45	malignant migrating partial seizures of infancy	10.2	SLC25A22 SCN2A SCN1A KCNT1
46	pyridoxamine 5-prime-phosphate oxidase deficiency	10.2	PNPO KCNQ2
47	developmental and epileptic encephalopathy 13	10.2	SCN8A SCN2A SCN1B SCN1A
48	febrile seizures, familial, 8	10.1	SCN1B SCN1A
49	paramyotonia congenita of von eulenburg	10.1	SCN8A SCN2A SCN1B SCN1A
50	paroxysmal extreme pain disorder	10.1	SCN8A SCN2A SCN1B SCN1A

Graphical network of the top 20 diseases related to Infancy Electroclinical Syndrome:

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Symptoms & Phenotypes for Infancy Electroclinical Syndrome

MGI Mouse Phenotypes related to Infancy Electroclinical Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.13	ARX ATP1A2 CDKL5 GABRA1 KCNQ2 KCNQ3
2	growth/size/body region	MP:0005378	9.97	ARX ATP1A2 GABRA1 KCNQ2 KCNQ3 PCDH10
3	mortality/aging	MP:0010768	9.77	ARX ATP1A2 GABRA1 KCNQ2 KCNQ3 PCDH10
4	nervous system	MP:0003631	9.55	ARX ATP1A2 CDKL5 GABRA1 KCNQ2 KCNQ3

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Drugs & Therapeutics for Infancy Electroclinical Syndrome

Search Clinical Trials , NIH Clinical Center for Infancy Electroclinical Syndrome

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Genetic Tests for Infancy Electroclinical Syndrome

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Anatomical Context for Infancy Electroclinical Syndrome

MalaCards organs/tissues related to Infancy Electroclinical Syndrome:

⁴⁰

Heart, Temporal Lobe

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Publications for Infancy Electroclinical Syndrome

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Genes for Infancy Electroclinical Syndrome

Genes related to Infancy Electroclinical Syndrome (0 elite genes):

(show all 27)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PRRT2	Proline Rich Transmembrane Protein 2	Protein Coding	8.98	DISEASES inferred ¹⁵
2	STXBP1	Syntaxin Binding Protein 1	Protein Coding	8.43	DISEASES inferred ¹⁵
3	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	8.4	DISEASES inferred ¹⁵
4	ARX	Aristaless Related Homeobox	Protein Coding	8.2	DISEASES inferred ¹⁵
5	POMC	Proopiomelanocortin	Protein Coding	8.12	DISEASES inferred ¹⁵
6	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	8	DISEASES inferred ¹⁵
7	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	7.84	DISEASES inferred ¹⁵
8	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	7.79	DISEASES inferred ¹⁵
9	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	7.51	DISEASES inferred ¹⁵
10	KCNT1	Potassium Sodium-Activated Channel Subfamily T Member 1	Protein Coding	7.46	DISEASES inferred ¹⁵
11	PCDH19	Protocadherin 19	Protein Coding	7.31	DISEASES inferred ¹⁵
12	KCNQ3	Potassium Voltage-Gated Channel Subfamily Q Member 3	Protein Coding	7.27	DISEASES inferred ¹⁵
13	SLC25A22	Solute Carrier Family 25 Member 22	Protein Coding	7.19	DISEASES inferred ¹⁵
14	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	6.94	DISEASES inferred ¹⁵
15	ALG13	ALG13 UDP-N-Acetylglucosaminyltransferase Subunit	Protein Coding	6.86	DISEASES inferred ¹⁵
16	PCDH10	Protocadherin 10	Protein Coding	6.85	DISEASES inferred ¹⁵
17	ATP1A2	ATPase Na+/K+ Transporting Subunit Alpha 2	Protein Coding	6.82	DISEASES inferred ¹⁵
18	GABRA1	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1	Protein Coding	6.63	DISEASES inferred ¹⁵
19	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	6.55	DISEASES inferred ¹⁵
20	PNPO	Pyridoxamine 5'-Phosphate Oxidase	Protein Coding	6.51	DISEASES inferred ¹⁵
21	SNAP25	Synaptosome Associated Protein 25	Protein Coding	6.47	DISEASES inferred ¹⁵
22	FOXG1	Forkhead Box G1	Protein Coding	6.31	DISEASES inferred ¹⁵
23	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	6.31	DISEASES inferred ¹⁵
24	ST3GAL3	ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3	Protein Coding	6.18	DISEASES inferred ¹⁵
25	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	6.18	DISEASES inferred ¹⁵
26	GABRB3	Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3	Protein Coding	6.16	DISEASES inferred ¹⁵
27	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	6.13	DISEASES inferred ¹⁵

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Variations for Infancy Electroclinical Syndrome

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Expression for Infancy Electroclinical Syndrome

Search GEO for disease gene expression data for Infancy Electroclinical Syndrome.

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Pathways for Infancy Electroclinical Syndrome

Pathways related to Infancy Electroclinical Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.19	SPTAN1 SCN8A SCN2A SCN1B SCN1A KCNQ3
2	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	12.53	SCN8A SCN2A SCN1B SCN1A ATP1A2
3	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.39	SCN8A SCN2A SCN1B SCN1A KCNT1 ATP1A2
4	G-Beta Gamma Signaling ⁶³ Show member pathways CRHR Pathway ⁶³ GHRH Signaling ⁶³	12.35	SCN8A SCN2A SCN1B SCN1A POMC
5	Neuroscience ⁴	12.23	STXBP1 SCN8A SCN2A SCN1B SCN1A POMC
6	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.6	SPTAN1 SCN8A SCN2A SCN1B SCN1A KCNQ3
7	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.43	SCN8A SCN2A SCN1B SCN1A
8	Interaction between L1 and Ankyrins ⁶⁵	10.64	SPTAN1 SCN8A SCN2A SCN1B SCN1A KCNQ3

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GO Terms for Infancy Electroclinical Syndrome

Cellular components related to Infancy Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.39	STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1B
2	integral component of membrane	GO:0016021	10.29	SLC25A22 SCN8A SCN2A SCN1B SCN1A PRRT2
3	plasma membrane	GO:0005886	10.25	STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
4	integral component of plasma membrane	GO:0005887	10.04	SCN2A SCN1B PCDH19 PCDH10 KCNQ3 KCNQ2
5	synapse	GO:0045202	9.93	PRRT2 KCNQ3 KCNQ2 GABRA1 CDKL5 ATP1A2
6	axon	GO:0030424	9.88	STXBP1 SCN8A SCN2A SCN1B SCN1A PRRT2
7	intercalated disc	GO:0014704	9.67	SCN2A SCN1B SCN1A ATP1A2
8	T-tubule	GO:0030315	9.62	SCN2A SCN1B SCN1A ATP1A2
9	axon initial segment	GO:0043194	9.46	SCN8A SCN1A KCNQ3 KCNQ2
10	sodium channel complex	GO:0034706	9.43	SCN2A SCN1B SCN1A
11	voltage-gated sodium channel complex	GO:0001518	9.26	SCN8A SCN2A SCN1B SCN1A
12	node of Ranvier	GO:0033268	9.1	SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

Biological processes related to Infancy Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	9.97	SLC25A22 SCN8A SCN2A SCN1A KCNQ3 KCNQ2
2	potassium ion transport	GO:0006813	9.78	KCNT1 KCNQ3 KCNQ2 ATP1A2
3	potassium ion transmembrane transport	GO:0071805	9.76	KCNT1 KCNQ3 KCNQ2 ATP1A2
4	sodium ion transport	GO:0006814	9.72	SCN8A SCN2A SCN1B SCN1A ATP1A2
5	cation transmembrane transport	GO:0098655	9.71	SCN8A SCN2A SCN1A ATP1A2
6	sodium ion transmembrane transport	GO:0035725	9.65	SCN8A SCN2A SCN1B SCN1A ATP1A2
7	regulation of ion transmembrane transport	GO:0034765	9.63	SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
8	neuronal action potential	GO:0019228	9.61	SCN8A SCN2A SCN1A
9	cardiac muscle cell action potential involved in contraction	GO:0086002	9.56	SCN1B SCN1A
10	ion transmembrane transport	GO:0034220	9.56	SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
11	neuromuscular process controlling posture	GO:0050884	9.55	SCN1A PRRT2
12	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.54	SCN1B ATP1A2
13	membrane depolarization during action potential	GO:0086010	9.54	SCN8A SCN2A SCN1A
14	locomotion	GO:0040011	9.52	SCN1B ATP1A2
15	neuronal action potential propagation	GO:0019227	9.51	SCN1B SCN1A
16	ion transport	GO:0006811	9.32	SLC25A22 SCN8A SCN2A SCN1B SCN1A KCNT1

Molecular functions related to Infancy Electroclinical Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel activity	GO:0005216	9.63	SCN8A SCN2A SCN1A KCNQ3 KCNQ2 GABRA1
2	sodium channel activity	GO:0005272	9.56	SCN8A SCN2A SCN1B SCN1A
3	potassium channel activity	GO:0005267	9.54	KCNT1 KCNQ3 KCNQ2
4	cation channel activity	GO:0005261	9.5	SCN8A SCN2A SCN1A
5	voltage-gated sodium channel activity	GO:0005248	9.26	SCN8A SCN2A SCN1B SCN1A
6	voltage-gated ion channel activity	GO:0005244	9.1	SCN8A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

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Sources for Infancy Electroclinical Syndrome

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