MCID: FML306
MIFTS: 38

Familial or Sporadic Hemiplegic Migraine

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial or Sporadic Hemiplegic Migraine

MalaCards integrated aliases for Familial or Sporadic Hemiplegic Migraine:

Name: Familial or Sporadic Hemiplegic Migraine 58

Characteristics:

Orphanet epidemiological data:

58
familial or sporadic hemiplegic migraine
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Familial or Sporadic Hemiplegic Migraine

MalaCards based summary : Familial or Sporadic Hemiplegic Migraine is related to sporadic hemiplegic migraine and migraine, familial hemiplegic, 2. An important gene associated with Familial or Sporadic Hemiplegic Migraine is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways is Synaptic vesicle cycle. Affiliated tissues include eye and tongue, and related phenotypes are focal motor seizure and focal sensory seizure

Related Diseases for Familial or Sporadic Hemiplegic Migraine

Diseases in the Familial Hemiplegic Migraine family:

Migraine, Familial Hemiplegic, 1 Migraine, Familial Hemiplegic, 2
Migraine, Familial Hemiplegic, 3 Sporadic Hemiplegic Migraine
Familial or Sporadic Hemiplegic Migraine

Diseases related to Familial or Sporadic Hemiplegic Migraine via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 sporadic hemiplegic migraine 29.9 SCN1A CACNA1A ATP1A2
2 migraine, familial hemiplegic, 2 29.5 SCN1A PRRT2 CACNA1A ATP1A2
3 migraine with or without aura 1 29.4 SCN1A PRRT2 CACNA1A ATP1A2
4 familial hemiplegic migraine 28.8 SCN1A PRRT2 LOC102724058 CACNA1A ATP1A2
5 seizures, benign familial infantile, 1 11.4
6 familiar or sporadic hemiplegic migraine 11.4
7 episodic ataxia, type 5 10.0 CACNA1A ATP1A2
8 encephalopathy 10.0 SCN1A CACNA1A
9 torticollis 10.0 PRRT2 CACNA1A
10 choreatic disease 9.9 PRRT2 CACNA1A
11 adolescence-adult electroclinical syndrome 9.9 SCN1A CACNA1A
12 photosensitive epilepsy 9.9 SCN1A CACNA1A
13 benign familial neonatal epilepsy 9.9 SCN1A PRRT2
14 childhood electroclinical syndrome 9.9 SCN1A CACNA1A
15 paroxysmal extreme pain disorder 9.9 SCN1A CACNA1A
16 lennox-gastaut syndrome 9.9 SCN1A CACNA1A
17 status epilepticus 9.8 SCN1A CACNA1A
18 early myoclonic encephalopathy 9.8 SCN1A CACNA1A
19 megalencephaly, autosomal dominant 9.8 SCN1A LOC102724058
20 megalencephaly 9.8 SCN1A LOC102724058
21 myoclonic epilepsy of infancy 9.8 SCN1A LOC102724058
22 genetic epilepsy with febrile seizures plus 9.8 SCN1A LOC102724058
23 scn1a seizure disorders 9.8 SCN1A LOC102724058
24 plagiocephaly 9.8 SCN1A LOC102724058
25 epilepsy, myoclonic juvenile 9.8 SCN1A CACNA1A
26 patent foramen ovale 9.8 SCN1A ATP1A2
27 generalized epilepsy with febrile seizures plus, type 1 9.8 SCN1A LOC102724058
28 generalized epilepsy with febrile seizures plus, type 2 9.8 SCN1A LOC102724058
29 hemimegalencephaly 9.8 SCN1A LOC102724058
30 generalized epilepsy with febrile seizures plus, type 7 9.8 SCN1A LOC102724058
31 movement disease 9.7 PRRT2 CACNA1A
32 hemiplegia 9.7 SCN1A CACNA1A ATP1A2
33 malignant migrating partial seizures of infancy 9.7 SCN1A LOC102724058
34 spinocerebellar ataxia 6 9.7 SCN1A CACNA1A ATP1A2
35 episodic ataxia, type 2 9.7 SCN1A CACNA1A ATP1A2
36 migraine without aura 9.7 SCN1A CACNA1A ATP1A2
37 leukoencephalopathy, hereditary diffuse, with spheroids 9.7 SCN1A LOC102724058
38 headache 9.7 SCN1A CACNA1A ATP1A2
39 hypertelorism 9.7 SCN1A LOC102724058
40 neonatal period electroclinical syndrome 9.7 SCN1A PRRT2 CACNA1A
41 childhood absence epilepsy 9.7 SCN1A PRRT2 CACNA1A
42 focal epilepsy 9.6 SCN1A LOC102724058
43 neuronal migration disorders 9.6 SCN1A LOC102724058 ATP1A2
44 polymicrogyria 9.6 SCN1A LOC102724058 ATP1A2
45 febrile seizures 9.5 SCN1A PRRT2 LOC102724058
46 infancy electroclinical syndrome 9.5 SCN1A PRRT2 CACNA1A ATP1A2
47 migraine, familial hemiplegic, 1 9.5 SCN1A PRRT2 CACNA1A ATP1A2
48 benign familial infantile epilepsy 9.5 SCN1A PRRT2 CACNA1A ATP1A2
49 alternating hemiplegia of childhood 9.5 SCN1A PRRT2 CACNA1A ATP1A2
50 episodic ataxia 9.5 SCN1A PRRT2 CACNA1A ATP1A2

Graphical network of the top 20 diseases related to Familial or Sporadic Hemiplegic Migraine:



Diseases related to Familial or Sporadic Hemiplegic Migraine

Symptoms & Phenotypes for Familial or Sporadic Hemiplegic Migraine

Human phenotypes related to Familial or Sporadic Hemiplegic Migraine:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 focal motor seizure 58 31 hallmark (90%) Very frequent (99-80%) HP:0011153
2 focal sensory seizure 58 31 hallmark (90%) Very frequent (99-80%) HP:0011157
3 migraine with aura 58 31 hallmark (90%) Very frequent (99-80%) HP:0002077
4 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
5 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
6 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
7 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
8 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
9 scotoma 58 31 frequent (33%) Frequent (79-30%) HP:0000575
10 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
11 confusion 58 31 frequent (33%) Frequent (79-30%) HP:0001289
12 progressive gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0007240
13 metamorphopsia 58 31 frequent (33%) Frequent (79-30%) HP:0012508
14 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
15 cerebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0002181
16 tongue fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0001308
17 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
18 photopsia 58 31 frequent (33%) Frequent (79-30%) HP:0030786
19 facial tics 58 31 frequent (33%) Frequent (79-30%) HP:0011468
20 csf lymphocytic pleiocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0200149
21 dissociated sensory loss 58 31 frequent (33%) Frequent (79-30%) HP:0010835
22 complex febrile seizure 31 frequent (33%) HP:0011172
23 dysphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002357
24 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
25 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
26 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
27 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
28 distal upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0008959
29 facial paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007209
30 vertical nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0010544
31 spontaneous pain sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0010833
32 impaired thermal sensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0006901
33 gaze-evoked horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0007979
34 seesaw nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0012044
35 nuchal rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0031179
36 eeg with generalized sharp slow waves 58 31 occasional (7.5%) Occasional (29-5%) HP:0011199
37 decreased vigilance 58 31 occasional (7.5%) Occasional (29-5%) HP:0032044
38 alien limb phenomenon 58 31 occasional (7.5%) Occasional (29-5%) HP:0032506
39 intellectual disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001249
40 status epilepticus 58 31 very rare (1%) Very rare (<4-1%) HP:0002133
41 amaurosis fugax 58 31 very rare (1%) Very rare (<4-1%) HP:0100576
42 first dorsal interossei muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0003392
43 eeg with focal sharp waves 58 31 very rare (1%) Very rare (<4-1%) HP:0011196
44 neurological speech impairment 58 Very frequent (99-80%)
45 eeg abnormality 58 Very frequent (99-80%)
46 muscle weakness 58 Very frequent (99-80%)
47 involuntary movements 58 Frequent (79-30%)
48 csf pleocytosis 58 Frequent (79-30%)
49 complex febrile seizures 58 Frequent (79-30%)

Drugs & Therapeutics for Familial or Sporadic Hemiplegic Migraine

Search Clinical Trials , NIH Clinical Center for Familial or Sporadic Hemiplegic Migraine

Genetic Tests for Familial or Sporadic Hemiplegic Migraine

Anatomical Context for Familial or Sporadic Hemiplegic Migraine

MalaCards organs/tissues related to Familial or Sporadic Hemiplegic Migraine:

40
Eye, Tongue

Publications for Familial or Sporadic Hemiplegic Migraine

Articles related to Familial or Sporadic Hemiplegic Migraine:

(show all 39)
# Title Authors PMID Year
1
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. 6
25138102 2015
2
De novo mutations in epileptic encephalopathies. 6
23934111 2013
3
Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine. 6
22117059 2012
4
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. 6
19586927 2009
5
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 6
19332696 2009
6
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. 6
18400034 2008
7
Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation. 6
18313928 2008
8
Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine. 6
17877748 2007
9
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. 6
17473835 2007
10
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. 6
17952365 2007
11
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2. 6
16037212 2005
12
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. 6
16054936 2005
13
Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel. 6
15795222 2005
14
Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2. 6
15308625 2004
15
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. 6
15452324 2004
16
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 6
15459825 2004
17
Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy. 6
15277634 2004
18
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. 6
15133718 2004
19
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. 6
15159495 2004
20
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 6
12953268 2003
21
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. 6
12756131 2003
22
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. 6
12707077 2003
23
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. 6
12539047 2003
24
Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. 6
12056940 2002
25
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. 6
11409427 2001
26
Missense CACNA1A mutation causing episodic ataxia type 2. 6
11176968 2001
27
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. 6
11061267 2000
28
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. 6
10987655 1999
29
Genetic heterogeneity in Italian families with familial hemiplegic migraine. 6
10408532 1999
30
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. 6
10408534 1999
31
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. 6
9915947 1999
32
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome. 6
9579893 1997
33
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 6
8898206 1996
34
Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG. 6
8734765 1996
35
Exocytotic Ca2+ channels in mammalian central neurons. 6
7537420 1995
36
Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade? 61
27651281 2017
37
Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 61
24921013 2014
38
Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2. 61
18728015 2008
39
Treatment of hemiplegic migraine with triptans. 61
17718700 2007

Variations for Familial or Sporadic Hemiplegic Migraine

ClinVar genetic disease variations for Familial or Sporadic Hemiplegic Migraine:

6 (show top 50) (show all 361)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP1A2 NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro) SNV Pathogenic 12917 rs28933398 GRCh37: 1:160105635-160105635
GRCh38: 1:160135845-160135845
2 ATP1A2 NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg) SNV Pathogenic 12918 rs28933399 GRCh37: 1:160106455-160106455
GRCh38: 1:160136665-160136665
3 ATP1A2 NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) SNV Pathogenic 12919 rs28933400 GRCh37: 1:160105300-160105300
GRCh38: 1:160135510-160135510
4 ATP1A2 NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg) SNV Pathogenic 12922 rs121918612 GRCh37: 1:160097494-160097494
GRCh38: 1:160127704-160127704
5 ATP1A2 NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala) SNV Pathogenic 12923 rs121918613 GRCh37: 1:160098457-160098457
GRCh38: 1:160128667-160128667
6 ATP1A2 NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) SNV Pathogenic 12924 rs121918614 GRCh37: 1:160105260-160105260
GRCh38: 1:160135470-160135470
7 ATP1A2 NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) SNV Pathogenic 12927 rs121918617 GRCh37: 1:160097450-160097450
GRCh38: 1:160127660-160127660
8 ATP1A2 NM_000702.4(ATP1A2):c.571G>A (p.Val191Met) SNV Pathogenic 222078 rs869025341 GRCh37: 1:160094161-160094161
GRCh38: 1:160124371-160124371
9 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His) SNV Pathogenic 12903 rs121918633 GRCh37: 2:166854557-166854557
GRCh38: 2:165998047-165998047
10 CACNA1A NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) SNV Pathogenic 8487 rs121908211 GRCh37: 19:13482558-13482558
GRCh38: 19:13371744-13371744
11 CACNA1A NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) SNV Pathogenic 8489 rs121908213 GRCh37: 19:13414394-13414394
GRCh38: 19:13303580-13303580
12 CACNA1A NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) SNV Pathogenic 8490 rs121908214 GRCh37: 19:13340999-13340999
GRCh38: 19:13230185-13230185
13 CACNA1A NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu) SNV Pathogenic 8497 rs121908218 GRCh37: 19:13414390-13414390
GRCh38: 19:13303576-13303576
14 CACNA1A NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys) SNV Pathogenic 8499 rs121908219 GRCh37: 19:13372366-13372366
GRCh38: 19:13261552-13261552
15 CACNA1A NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) SNV Pathogenic 8503 rs121908237 GRCh37: 19:13370403-13370403
GRCh38: 19:13259589-13259589
16 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys) SNV Pathogenic 12893 rs121918628 GRCh37: 2:166854559-166854559
GRCh38: 2:165998049-165998049
17 ATP1A2 NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) SNV Pathogenic 585462 rs757310141 GRCh37: 1:160109745-160109745
GRCh38: 1:160139955-160139955
18 CACNA1A NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) SNV Pathogenic 68433 rs121908220 GRCh37: 19:13346499-13346499
GRCh38: 19:13235685-13235685
19 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His) SNV Pathogenic 930321 GRCh37: 2:166848444-166848444
GRCh38: 2:165991934-165991934
20 SCN1A NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter) SNV Pathogenic 930758 GRCh37: 2:166900379-166900379
GRCh38: 2:166043869-166043869
21 SCN1A NM_001165963.4(SCN1A):c.1028+2T>C SNV Pathogenic 932130 GRCh37: 2:166905394-166905394
GRCh38: 2:166048884-166048884
22 CACNA1A and overlap with 1 gene(s) NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del Deletion Pathogenic 8520 GRCh37: 19:13317256-13335480
GRCh38: 19:13206442-13224666
23 CACNA1A NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) SNV Pathogenic 995995 GRCh37: 19:13419004-13419004
GRCh38: 19:13308190-13308190
24 CACNA1A NM_001127222.2(CACNA1A):c.4494_4496CTT[2] (p.Phe1501del) Microsatellite Pathogenic 279951 rs886041279 GRCh37: 19:13368252-13368254
GRCh38: 19:13257438-13257440
25 CACNA1A NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) SNV Pathogenic 8513 rs121908230 GRCh37: 19:13373603-13373603
GRCh38: 19:13262789-13262789
26 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) SNV Pathogenic 12902 rs121918632 GRCh37: 2:166852609-166852609
GRCh38: 2:165996099-165996099
27 ATP1A2 NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) SNV Pathogenic 12920 rs28933401 GRCh37: 1:160105036-160105036
GRCh38: 1:160135246-160135246
28 CACNA1A NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) SNV Pathogenic 8488 rs121908212 GRCh37: 19:13414691-13414691
GRCh38: 19:13303877-13303877
29 CACNA1A NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) SNV Pathogenic 8504 rs121908225 GRCh37: 19:13476262-13476262
GRCh38: 19:13365448-13365448
30 CACNA1A NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) SNV Pathogenic 8505 rs121908217 GRCh37: 19:13419266-13419266
GRCh38: 19:13308452-13308452
31 CACNA1A NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) SNV Pathogenic 8510 rs121909326 GRCh37: 19:13346033-13346033
GRCh38: 19:13235219-13235219
32 ATP1A2 NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) SNV Pathogenic 12925 rs121918615 GRCh37: 1:160109525-160109525
GRCh38: 1:160139735-160139735
33 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile) SNV Pathogenic 931824 GRCh37: 2:166850736-166850736
GRCh38: 2:165994226-165994226
34 ATP1A2 NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) SNV Pathogenic 12930 rs121918620 GRCh37: 1:160098551-160098551
GRCh38: 1:160128761-160128761
35 CACNA1A NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) SNV Pathogenic 8507 rs121909324 GRCh37: 19:13366031-13366031
GRCh38: 19:13255217-13255217
36 CACNA1A NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr) SNV Pathogenic 254268 GRCh37: 19:13414398-13414398
GRCh38: 19:13303584-13303584
37 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) SNV Pathogenic 68558 rs121917976 GRCh37: 2:166848851-166848851
GRCh38: 2:165992341-165992341
38 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) SNV Pathogenic 206837 rs139300715 GRCh37: 2:166852557-166852557
GRCh38: 2:165996047-165996047
39 SCN1A NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) SNV Pathogenic 189869 rs794726718 GRCh37: 2:166894440-166894440
GRCh38: 2:166037930-166037930
40 SCN1A NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) SNV Pathogenic 68578 rs121917984 GRCh37: 2:166909379-166909379
GRCh38: 2:166052869-166052869
41 SCN1A NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) SNV Pathogenic 265254 rs886039430 GRCh37: 2:166900520-166900520
GRCh38: 2:166044010-166044010
42 SCN1A NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) SNV Pathogenic 265254 rs886039430 GRCh37: 2:166900520-166900520
GRCh38: 2:166044010-166044010
43 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) SNV Pathogenic 68558 rs121917976 GRCh37: 2:166848851-166848851
GRCh38: 2:165992341-165992341
44 SCN1A NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) SNV Pathogenic 68527 rs121917965 GRCh37: 2:166915162-166915162
GRCh38: 2:166058652-166058652
45 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) SNV Pathogenic 68551 rs121917975 GRCh37: 2:166850875-166850875
GRCh38: 2:165994365-165994365
46 SCN1A NM_006920.6(SCN1A):c.602+1G>A SNV Pathogenic 197187 GRCh37: 2:166911147-166911147
GRCh38: 2:166054637-166054637
47 SCN1A NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) SNV Pathogenic 93635 rs398123585 GRCh37: 2:166900385-166900385
GRCh38: 2:166043875-166043875
48 CACNA1A NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) SNV Pathogenic 380972 rs1057520918 GRCh37: 19:13373594-13373594
GRCh38: 19:13262780-13262780
49 SCN1A NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) SNV Pathogenic 12889 rs121918624 GRCh37: 2:166909392-166909392
GRCh38: 2:166052882-166052882
50 SCN1A NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) SNV Pathogenic 68528 rs121917918 GRCh37: 2:166915161-166915161
GRCh38: 2:166058651-166058651

Expression for Familial or Sporadic Hemiplegic Migraine

Search GEO for disease gene expression data for Familial or Sporadic Hemiplegic Migraine.

Pathways for Familial or Sporadic Hemiplegic Migraine

Pathways related to Familial or Sporadic Hemiplegic Migraine according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.74 CACNA1A ATP1A2

GO Terms for Familial or Sporadic Hemiplegic Migraine

Cellular components related to Familial or Sporadic Hemiplegic Migraine according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.43 PRRT2 CACNA1A ATP1A2
2 presynapse GO:0098793 9.37 PRRT2 CACNA1A
3 neuronal cell body GO:0043025 9.33 SCN1A CACNA1A ATP1A2
4 dendritic spine GO:0043197 9.32 PRRT2 ATP1A2
5 intercalated disc GO:0014704 8.96 SCN1A ATP1A2
6 T-tubule GO:0030315 8.62 SCN1A ATP1A2

Biological processes related to Familial or Sporadic Hemiplegic Migraine according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.5 SCN1A CACNA1A ATP1A2
2 regulation of ion transmembrane transport GO:0034765 9.4 SCN1A CACNA1A
3 sodium ion transport GO:0006814 9.37 SCN1A ATP1A2
4 ion transmembrane transport GO:0034220 9.33 SCN1A CACNA1A ATP1A2
5 sodium ion transmembrane transport GO:0035725 9.26 SCN1A ATP1A2
6 neuromuscular process controlling posture GO:0050884 8.96 SCN1A PRRT2
7 cation transmembrane transport GO:0098655 8.8 SCN1A CACNA1A ATP1A2

Molecular functions related to Familial or Sporadic Hemiplegic Migraine according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.96 SCN1A CACNA1A
2 cation channel activity GO:0005261 8.62 SCN1A CACNA1A

Sources for Familial or Sporadic Hemiplegic Migraine

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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