MCID: ALT001
MIFTS: 54

Alternating Hemiplegia of Childhood malady

Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases categories

Summaries for Alternating Hemiplegia of Childhood

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NINDS:42 Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. Oftentimes these episodes will resolve after sleep. Affected children may also have abnormal movements involving stiffening or "dance-like" movements of a limb, as well as walking and balance problems. Some children have seizures. Children may have normal or delayed development. There are both benign and more serious forms of the disorder. Most children do not have a family history of the disorder; however, recent studies have show that some children with a family history have mutations in the genes CACNA1A, SCN1A, and ATP1A2. Mutations in the ATP1A2 gene have previously been associated with families affect by familial hemiplegic migraine.

MalaCards based summary: Alternating Hemiplegia of Childhood, also known as alternating hemiplegia in childhood, is related to hemiplegia and migraine, and has symptoms including generalized tonic-clonic seizures, autosomal dominant inheritance and nystagmus. An important gene associated with Alternating Hemiplegia of Childhood is ATP1A2 (ATPase, Na+/K+ transporting, alpha 2 polypeptide), and among its related pathways are Cardiac muscle contraction and Hepatic ABC Transporters. The compounds lithium carbonate and ouabain have been mentioned in the context of this disorder. Affiliated tissues include eye, adrenal gland and skeletal muscle, and related mouse phenotypes are respiratory system and integument.

Disease Ontology:9 A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body.

Genetics Home Reference:21 Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time. These episodes begin in infancy or early childhood, usually before 18 months of age, and the paralysis lasts from minutes to days.

NIH Rare Diseases:41 Alternating hemiplegia of childhood (ahc) is a severe disorder affecting the neurological system of children usually before 18 months of age. classic ahc causes recurrent episodes of paralysis (hemiplegia) that involve one or both sides of the body, multiple limbs, or a single limb. the paralysis may affect different parts of the body at different times and may be brief or last for several days. symptoms disappear during sleep and return upon waking. the majority of affected children display some degree of developmental delay, abnormal eye (oculomotor) movements, uncontrolled limb movements (including ataxia, dystonia, and choreoathetosis) and seizures that occur in up to 50% of patients.  treatment options are limited to therapies that can help with some of the symptoms. the majority of cases of classic ahc are caused by new mutation in the atp1a3 gene that is not inherited. thus, most patients with ahc with a mutation in atp1a3 gene do not have a family history of the disorder.  additional genes such as cacna1a and atp1a2 have been identified in some cases of ahc with an atypical clinical presentation.  atp1a2 mutations were shown, however, to be more consistent with familial hemiplegic migraine. last updated: 11/29/2012

OMIM:45 Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most... (104290) more...

Wikipedia:63 Alternating hemiplegia of childhood (AHC) is a rare neurological disorder of uncertain etiology, though... more...

Aliases & Classifications for Alternating Hemiplegia of Childhood

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 42NINDS, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Alternating Hemiplegia of Childhood, Aliases & Descriptions:

Name: Alternating Hemiplegia of Childhood 45 9 10 41 21 47 60
Alternating Hemiplegia in Childhood 41 20 47 22
Ahc 9 41 47
Alternating Hemiplegia Syndrome 41 21
 
Alternating Hemiplegia 41 42
Congenital Hypoplasia of Adrenal Gland 60
Hemiplegia, Crossed 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
alternating hemiplegia of childhood:
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 104290
Disease Ontology9 DOID:0050635
Orphanet47 2131
MESH via Orphanet34 C536589
ICD10 via Orphanet26 G98
UMLS via Orphanet61 C0338488

Related Diseases for Alternating Hemiplegia of Childhood

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Diseases in the Alternating Hemiplegia of Childhood family:

Alternating Hemiplegia of Childhood 2 Atp1a2-Related Alternating Hemiplegia of Childhood
Atp1a3-Related Alternating Hemiplegia of Childhood

Diseases related to Alternating Hemiplegia of Childhood via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1hemiplegia31.9CACNA1A, ATP1A2, ATP1A3
2migraine31.2ATP1A2, CACNA1A
3hemiplegic migraine31.2CACNA1A, ATP1A2
4familial hemiplegic migraine31.1CACNA1A, ATP1A2
5alternating hemiplegia of childhood 210.7
6dystonia10.6
7benign familial nocturnal alternating hemiplegia of childhood10.5
8acute hemorrhagic conjunctivitis10.5
9conjunctivitis10.5
10atp1a2-related alternating hemiplegia of childhood10.5
11atp1a3-related alternating hemiplegia of childhood10.5
12x-linked adrenal hypoplasia congenita10.4
13episodic ataxia10.4SLC1A3
14cerebritis10.4
15medial medullary syndrome10.3
16capos syndrome10.2
17hypotonia10.2
18infantile hypotonia10.2
19movement disease10.2ATP1A3, SLC2A1
20chromosome xp21 deletion syndrome10.2
21adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.2
22amyloidosis10.2
23quadriplegia10.1
24hemiplegia alterans10.1
25dermatitis10.0
26complex regional pain syndrome10.0TAC1, CALCA
27giant cell tumor10.0CALCA, MMP9
28mental retardation10.0SLC1A3, CACNA1A, ATP1A2
29cluster headache10.0CACNA1A, CALCA
30papillary carcinoma10.0SLC2A1, CALCA
31pain agnosia10.0CALCA, TAC1
32epilepsy syndrome10.0SLC2A1, CACNA1A, ATP1A2
33neuroendocrine tumor10.0CALCA, TAC1
34thyroid carcinoma, papillary10.0CALCA, SLC2A1
35diarrhea10.0TAC1, CALCA
36thyroid cancer9.9CALCA, SLC2A1
37transitional cell carcinoma9.9MMP9, SLC2A1
38carcinoid syndrome9.8CALCA, TAC1
39breast cancer9.8MMP9, SLC2A1, TAC1
40astrocytoma9.8TAC1, SLC2A1, SLC1A3, MMP9
41hypertension, essential9.8TAC1, CALCA, MMP9
42glioblastoma9.8TAC1, MMP9, SLC2A1, SLC1A3
43malignant glioma9.8MMP9, SLC1A3, TAC1, SLC2A1
44osteoarthritis9.8CALCA, MMP9, TAC1
45arthritis9.8CALCA, MMP9, TAC1
46neuropathy9.8CACNA1A, TAC1, CALCA
47schizophrenia9.7CACNA1A, TAC1, SLC2A1, SLC1A3
48diabetes mellitus, insulin-dependent9.6SLC2A1, CALCA, MMP9, TAC1

Graphical network of the top 20 diseases related to Alternating Hemiplegia of Childhood:



Diseases related to alternating hemiplegia of childhood

Symptoms for Alternating Hemiplegia of Childhood

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Symptoms by clinical synopsis from OMIM:

104290

Clinical features from OMIM:

104290

HPO human phenotypes related to Alternating Hemiplegia of Childhood:

(show all 9)
id Description Frequency HPO Source Accession
1 generalized tonic-clonic seizures typical (50%) HP:0002069
2 autosomal dominant inheritance HP:0000006
3 nystagmus HP:0000639
4 intellectual disability HP:0001249
5 choreoathetosis HP:0001266
6 mental deterioration HP:0001268
7 dystonia HP:0001332
8 episodic hemiplegia HP:0012194
9 episodic quadriplegia HP:0200072

Drugs & Therapeutics for Alternating Hemiplegia of Childhood

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Drug clinical trials:

Search ClinicalTrials for Alternating Hemiplegia of Childhood

Search NIH Clinical Center for Alternating Hemiplegia of Childhood

Genetic Tests for Alternating Hemiplegia of Childhood

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Genetic tests related to Alternating Hemiplegia of Childhood:

id Genetic test Affiliating Genes
1 Alternating Hemiplegia of Childhood20 22 ATP1A3

Anatomical Context for Alternating Hemiplegia of Childhood

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MalaCards organs/tissues related to Alternating Hemiplegia of Childhood:

31
Eye, Adrenal gland, Skeletal muscle

Animal Models for Alternating Hemiplegia of Childhood or affiliated genes

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MGI Mouse Phenotypes related to Alternating Hemiplegia of Childhood:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.2CALCA, CACNA1A, MMP9, ATP1A2
2MP:00107717.6ATP1A2, MMP9, CACNA1A, CALCA, TAC1
3MP:00107687.0ATP1A3, ATP1A2, MMP9, CACNA1A, CALCA, SLC2A1
4MP:00036317.0ATP1A3, ATP1A2, MMP9, CACNA1A, CALCA, SLC1A3
5MP:00053766.9ATP1A3, ATP1A2, MMP9, CACNA1A, CALCA, SLC1A3
6MP:00053866.5SLC2A1, ATP1A3, ATP1A2, MMP9, CACNA1A, CALCA

Publications for Alternating Hemiplegia of Childhood

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Articles related to Alternating Hemiplegia of Childhood:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? (25662428)
2015
2
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. (25523819)
2015
3
A functional correlate of severity in alternating hemiplegia of childhood. (25681536)
2015
4
A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. (24824604)
2014
5
Genotype-phenotype correlations in alternating hemiplegia of childhood. (24431296)
2014
6
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. (25056583)
2014
7
Alternating hemiplegia of childhood: new diagnostic options. (24821639)
2014
8
Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes. (25439493)
2014
9
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism. (24123283)
2014
10
Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood. (23681173)
2013
11
Mutations in ATP1A3 cause alternating hemiplegia of childhood. (23043298)
2013
12
Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood. (22899793)
2013
13
Application of Magnetic Resonance Spectroscopy in Patients with Alternating Hemiplegia of Childhood: Findings on Metabolic Dysfunctions. (24356855)
2013
14
Caregiver's burden and psychosocial issues in alternating hemiplegia of childhood. (23672836)
2013
15
Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology. (21550738)
2012
16
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. (22850527)
2012
17
Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are allelic disorders due to ATP1A3 gene mutations. (23460948)
2012
18
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. (22842232)
2012
19
An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins. (22378663)
2012
20
Absence of small-vessel abnormalities in alternating hemiplegia of childhood. (20826074)
2011
21
Child neurology: alternating hemiplegia of childhood. (20368625)
2010
22
Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC). (21445818)
2010
23
International Classification of Functioning, Disability and Health in subjects with alternating hemiplegia of childhood. (19968522)
2009
24
Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood. (18492605)
2009
25
Glut1 deficiency and alternating hemiplegia of childhood. (19996082)
2009
26
Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home-video recordings. (18618665)
2008
27
'Absence of T378N mutation of ATP1A2 gene in five patients with alternating hemiplegia of childhood'. (18811707)
2008
28
The treatment and management of alternating hemiplegia of childhood. (17880649)
2007
29
Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up. (16401872)
2006
30
Topiramate: a new agent for patients with alternating hemiplegia of childhood. (17177149)
2006
31
Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1. (17236110)
2006
32
Brainstem dysfunction in alternating hemiplegia of childhood: a neurophysiological study. (16674759)
2006
33
Alternating hemiplegia of childhood: a study of neuropsychological functioning. (15788223)
2005
34
General anesthesia for a patient with alternating hemiplegia of childhood. (16326684)
2005
35
Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2. (15534763)
2004
36
Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. (14667076)
2003
37
Alpha[11C] methyl-L-typtophan positron emission tomography in patients with alternating hemiplegia of childhood. (12088079)
2002
38
Caesarean section under general anaesthetic in a woman with alternating hemiplegia of childhood. (15321538)
2002
39
Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan. (11504600)
2001
40
Alternating hemiplegia of childhood in half-sisters. (10695898)
2000
41
Is alternating hemiplegia of childhood (AHC) a variant of migraine? (11167894)
2000
42
Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene. (11167897)
2000
43
Alternating hemiplegia of childhood or Hashimoto's encephalopathy? (10201439)
1999
44
Alternating hemiplegia of childhood: insights into its pathophysiology. (9477247)
1998
45
Alternating hemiplegia of childhood: treatment of attacks with chloral hydrate and niaprazine. (9039526)
1997
46
Alternating hemiplegia of childhood: report of a case having a long history. (9134195)
1997
47
Skeletal muscle mitochondrial dysfunction in alternating hemiplegia of childhood. (7574469)
1995
48
No structural or biochemical evidence for mitochondrial cytopathy in a case of alternating hemiplegia of childhood. (7979233)
1994
49
Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood. (8498840)
1993
50
Single-photon emission computed tomography investigations of alternating hemiplegia of childhood. (8335150)
1993

Variations for Alternating Hemiplegia of Childhood

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UniProtKB/Swiss-Prot genetic disease variations for Alternating Hemiplegia of Childhood:

62
id Symbol AA change Variation ID SNP ID
1ATP1A2p.Thr378AsnVAR_019934rs28934002

Clinvar genetic disease variations for Alternating Hemiplegia of Childhood:

6
id Gene Variation Type Significance SNP ID Assembly Location
1ATP1A3NM_152296.4(ATP1A3): c.2767G> A (p.Asp923Asn)single nucleotide variantPathogenicrs267606670GRCh37Chr 19, 42472989: 42472989
2ATP1A2NM_000702.3(ATP1A2): c.1133C> A (p.Thr378Asn)single nucleotide variantPathogenicrs28934002GRCh37Chr 1, 160098557: 160098557
3ATP1A3NM_152296.4(ATP1A3): c.2839G> C (p.Gly947Arg)single nucleotide variantPathogenicrs398122887GRCh38Chr 19, 41967744: 41967744
4ATP1A3NM_152296.4(ATP1A3): c.2401G> A (p.Asp801Asn)single nucleotide variantPathogenicrs80356537GRCh37Chr 19, 42474557: 42474557
5ATP1A3NM_152296.4(ATP1A3): c.2443G> A (p.Glu815Lys)single nucleotide variantPathogenicrs387907281GRCh37Chr 19, 42474436: 42474436
6ATP1A3NM_152296.4(ATP1A3): c.2431T> C (p.Ser811Pro)single nucleotide variantPathogenicrs387907282GRCh37Chr 19, 42474448: 42474448
7ATP1A3NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg)single nucleotide variantPathogenicrs398122887GRCh37Chr 19, 42471896: 42471896

Expression for genes affiliated with Alternating Hemiplegia of Childhood

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Search GEO for disease gene expression data for Alternating Hemiplegia of Childhood.

Pathways for genes affiliated with Alternating Hemiplegia of Childhood

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Pathways related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ATP1A2, ATP1A3
2
Show member pathways
9.8ATP1A2, ATP1A3
3
Show member pathways
calcium transport I36
9.8ATP1A2, ATP1A3
49.8ATP1A2, ATP1A3
59.8ATP1A3, ATP1A2
69.8ATP1A3, ATP1A2
79.8ATP1A3, ATP1A2
89.8ATP1A3, ATP1A2
99.8ATP1A3, ATP1A2
10
Show member pathways
9.8ATP1A3, ATP1A2
11
Show member pathways
Synaptic Vesicle Pathway36
9.3SLC1A3, CACNA1A, ATP1A2
12
Show member pathways
9.2ATP1A2, SLC2A1, ATP1A3
139.2ATP1A2, ATP1A3, SLC2A1
149.2ATP1A3, ATP1A2, SLC2A1
15
Show member pathways
9.2ATP1A3, ATP1A2, TAC1
169.2MMP9, CACNA1A
179.2SLC1A3, TAC1, ATP1A3
189.1SLC2A1, MMP9
19
Show member pathways
8.8ATP1A2, ATP1A3, SLC2A1, SLC1A3

Compounds for genes affiliated with Alternating Hemiplegia of Childhood

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Compounds related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1lithium carbonate5910.2ATP1A3, ATP1A2
2ouabain43 1210.9TAC1, ATP1A2
34-aminopyridine43 2810.9TAC1, CACNA1A
4rp6758043 2810.8CALCA, TAC1
5gr 7363243 5910.8CALCA, TAC1
6helospectin439.8CALCA, TAC1
7resiniferatoxin43 2810.8TAC1, CALCA
8cromakalim43 2810.7TAC1, CALCA
9guanethidine43 1210.7CALCA, TAC1
10i-app439.7CALCA, TAC1
11capsazepine59 43 2811.7TAC1, CALCA
12thiorphan43 28 1211.7TAC1, CALCA
13ng-nitro-l-arginine439.7CALCA, TAC1
14phosphoramidon43 1210.7TAC1, CALCA
15digoxin43 59 49 24 1213.7TAC1, ATP1A2, ATP1A3
16furosemide43 59 28 49 24 1214.6TAC1, CALCA
17captopril43 59 49 28 1213.6TAC1, CALCA
18methacholine43 49 1211.6CALCA, TAC1
19clonidine43 49 28 1212.5TAC1, CALCA
20alpha lipoic acid439.4SLC2A1, MMP9
21glibenclamide43 28 49 5912.4SLC2A1, CALCA
22zoledronic acid439.4CALCA, MMP9
23verapamil43 28 49 24 1213.4TAC1, CACNA1A, SLC2A1
24l-nmma439.4MMP9, TAC1
25malate439.4MMP9, SLC1A3
26atropine43 28 1211.3CALCA, TAC1
27prostaglandin f2alpha439.2SLC2A1, TAC1, CALCA
282-deoxyglucose43 1210.2CALCA, SLC2A1
29acetylcholine43 49 28 24 1213.2CALCA, CACNA1A, TAC1
30potassium43 24 1211.2TAC1, ATP1A3, ATP1A2, CACNA1A
31hydroxyproline43 24 1211.2MMP9, CALCA
32lactose43 1210.1MMP9, SLC2A1
33inositol439.1SLC1A3, SLC2A1, MMP9
34forskolin43 49 1211.1CALCA, SLC2A1, TAC1
35wortmannin439.1SLC2A1, MMP9, SLC1A3
36capsaicin43 2810.0TAC1, CALCA
37glutamine439.0TAC1, SLC1A3, SLC2A1, CACNA1A
38actinomycin d438.9SLC2A1, MMP9, TAC1
39epinephrine43 24 1210.9CALCA, MMP9, TAC1
40norepinephrine43 24 1210.9CALCA, TAC1, MMP9
41sodium43 249.8CACNA1A, TAC1, ATP1A3, SLC1A3, ATP1A2
42pge2438.7CALCA, TAC1, MMP9
43lactate438.7MMP9, CALCA, SLC2A1
44gaba438.6MMP9, SLC1A3, TAC1, SLC2A1
45cysteine438.6MMP9, SLC2A1, TAC1, SLC1A3
46dopamine43 28 24 1211.4SLC2A1, CALCA, MMP9, TAC1
47estrogen438.4MMP9, SLC2A1, TAC1, CALCA
48calcium43 49 24 1211.0CACNA1A, MMP9, ATP1A2, TAC1, CALCA
49adenylate438.0SLC1A3, MMP9, TAC1, CALCA, SLC2A1
50glutamate437.2CACNA1A, ATP1A2, MMP9, CALCA, TAC1, SLC1A3

GO Terms for genes affiliated with Alternating Hemiplegia of Childhood

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Cellular components related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase complexGO:00058909.8ATP1A2, ATP1A3
2caveolaGO:00059019.6SLC2A1, ATP1A2
3cell projectionGO:00429959.3SLC1A3, CACNA1A
4neuronal cell bodyGO:00430258.5SLC1A3, TAC1, CALCA, CACNA1A
5plasma membraneGO:00058867.7ATP1A3, ATP1A2, CACNA1A, TAC1, SLC1A3, SLC2A1

Biological processes related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1neurotransmitter uptakeGO:000150410.0SLC1A3, ATP1A2
2ATP biosynthetic processGO:000675410.0ATP1A2, ATP1A3
3visual learningGO:00085429.9ATP1A2, ATP1A3
4adult locomotory behaviorGO:00083449.9ATP1A2, ATP1A3
5sodium ion transmembrane transportGO:00357259.8ATP1A2, ATP1A3
6neuromuscular process controlling balanceGO:00508859.7SLC1A3, CACNA1A
7positive regulation of ossificationGO:00457789.6TAC1, CALCA
8response to painGO:00482659.6TAC1, CALCA
9regulation of insulin secretionGO:00507969.4SLC2A1, CACNA1A
10neuropeptide signaling pathwayGO:00072189.3TAC1, CALCA
11regulation of blood pressureGO:00082179.3TAC1, CALCA, ATP1A2
12embryo implantationGO:00075669.2MMP9, CALCA
13energy reserve metabolic processGO:00061129.2SLC2A1, CACNA1A
14positive regulation of cytosolic calcium ion concentrationGO:00072049.2CACNA1A, CALCA, TAC1
15synaptic transmissionGO:00072689.2CACNA1A, TAC1, SLC1A3
16transmembrane transportGO:00550859.1ATP1A3, ATP1A2, SLC1A3, SLC2A1

Molecular functions related to Alternating Hemiplegia of Childhood according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sodium:potassium-exchanging ATPase activityGO:00053919.5ATP1A2, ATP1A3
2identical protein bindingGO:00428028.5SLC2A1, CALCA, MMP9

Products for genes affiliated with Alternating Hemiplegia of Childhood

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Sources for Alternating Hemiplegia of Childhood

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3CDC
13ExPASy
14FMA
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
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38NCIt
39NDF-RT
42NINDS
43Novoseek
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46OMIM via Orphanet
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56SNOMED-CT via Orphanet
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