FHM1
MCID: MGR032
MIFTS: 40

Migraine, Familial Hemiplegic, 1 (FHM1)

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

Aliases & Classifications for Migraine, Familial Hemiplegic, 1

MalaCards integrated aliases for Migraine, Familial Hemiplegic, 1:

Name: Migraine, Familial Hemiplegic, 1 58 76 13
Familial Hemiplegic Migraine Type 1 54 30 6
Fhm1 58 54 76
Mhp1 58 54 76
Hemiplegic Migraine, Familial Type 1 54 74
Fhm 58 76
Migraine, Familial Hemiplegic, 1, with Progressive Cerebellar Ataxia 58
Migraine, Familial Hemiplegic 1, with Progressive Cerebellar Ataxia 54
Migraine Familial Hemiplegic with Progressive Cerebellar Ataxia 76
Migraine, Hemiplegic, Familial, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity
subtype of migraine with aura
onset 5-30 years
symptoms usually last 30-60 minutes
pulsatile headache lasts hours to days
in severe attacks, hemiplegia or coma may last days to weeks
triggered by minor head trauma
marked clinical variability within families
allelic disorder to episodic ataxia-2 (ea2, ) and spinocerebellar ataxia-6 (sca6, )


HPO:

33
migraine, familial hemiplegic, 1:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Migraine, Familial Hemiplegic, 1

NIH Rare Diseases : 54 Familial hemiplegic migraine (FHM) is an inherited form of hemiplegic migraine. Hemiplegic migraine is a type of migraine with aura that causes motor impairment (such as weakness) in addition to at least one visual, sensory, or speech disturbance (aura) that occurs before the migraine headache begins. FHM commonly begins during childhood or adolescence. The symptoms of FHM can be scary and distressing. FHM is currently classified into 4 subtypes, distinguished by their genetic cause:FHM type 1 (the most common type) is caused by mutations in the CACNA1A gene and is commonly associated with cerebellar degeneration. FHM type 2 is caused by mutations in the ATP1A2 gene and may be associated with seizures. FHM type 3 is caused by mutations in the SCN1A gene. FHM type 4 is diagnosed if no mutation currently known to cause FHM can be identified. Inheritance of FHM is autosomal dominant, but not everyone who inherits a mutation responsible for FHM will have symptoms (a phenomenon called reduced penetrance). The diagnosis of FHM requires that at least one first- or second-degree relative has also been diagnosed with hemiplegic migraine. Tests such as a CT scan or MRI of the brain, cerebrospinal fluid analysis, and EEG may be needed to rule out other potential causes of headache and neurological symptoms.Genetic testing may confirm the subtype of FHM in a family. Treatment of hemiplegic migraine involves medications to alleviate pain, stop the migraines, and prevent future migraines. Severe headache attacks may require hospitalization. In most people with hemiplegic migraines, aura symptoms completely go away in between migraines and the migraines become less frequent with age. Rarely, hemiplegic migraines may cause permanent neurological symptoms, cognitive impairment, stroke, coma, or death.

MalaCards based summary : Migraine, Familial Hemiplegic, 1, also known as familial hemiplegic migraine type 1, is related to migraine, familial hemiplegic, 2 and alternating hemiplegia of childhood 1, and has symptoms including fever, hemiplegia and hemiparesis. An important gene associated with Migraine, Familial Hemiplegic, 1 is CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A). The drugs Tolvaptan and Arginine Vasopressin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are seizures and tremor

UniProtKB/Swiss-Prot : 76 Migraine, familial hemiplegic, 1: A subtype of migraine with aura associated with ictal hemiparesis and, in some families, cerebellar ataxia and atrophy. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.

Description from OMIM: 141500

Related Diseases for Migraine, Familial Hemiplegic, 1

Graphical network of the top 20 diseases related to Migraine, Familial Hemiplegic, 1:



Diseases related to Migraine, Familial Hemiplegic, 1

Symptoms & Phenotypes for Migraine, Familial Hemiplegic, 1

Human phenotypes related to Migraine, Familial Hemiplegic, 1:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 tremor 33 occasional (7.5%) HP:0001337
3 nystagmus 33 HP:0000639
4 ataxia 33 HP:0001251
5 dysphasia 33 HP:0002357
6 fever 33 HP:0001945
7 anxiety 33 HP:0000739
8 migraine 33 HP:0002076
9 psychosis 33 HP:0000709
10 agitation 33 HP:0000713
11 confusion 33 HP:0001289
12 visual hallucinations 33 HP:0002367
13 coma 33 HP:0001259
14 cerebellar atrophy 33 HP:0001272
15 hemiplegia 33 HP:0002301
16 hemiparesis 33 HP:0001269
17 drowsiness 33 HP:0002329
18 dyscalculia 33 HP:0002442
19 auditory hallucinations 33 HP:0008765
20 migraine with aura 33 HP:0002077
21 transient unilateral blurring of vision 33 HP:0001125

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysphasia
migraine
confusion
hemiplegia
hemiparesis
more
Neurologic Behavioral Psychiatric Manifestations:
visual hallucinations
auditory hallucinations
anxiety attacks
paranoid psychosis

Metabolic Features:
fever

Head And Neck Eyes:
hemianopic blurring of vision
nystagmus (may be permanent in 50% of patients)

Clinical features from OMIM:

141500

UMLS symptoms related to Migraine, Familial Hemiplegic, 1:


fever, hemiplegia, hemiparesis, cerebellar ataxia, hallucinations, auditory, hallucinations, visual

Drugs & Therapeutics for Migraine, Familial Hemiplegic, 1

Drugs for Migraine, Familial Hemiplegic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tolvaptan Approved Phase 3 150683-30-0 216237
2 Arginine Vasopressin Phase 3
3 Hormones Phase 3,Not Applicable
4 Vasopressins Phase 3
5 Antidiuretic Hormone Receptor Antagonists Phase 3
6 Natriuretic Agents Phase 3
7
Nitroglycerin Approved, Investigational Not Applicable 55-63-0 4510
8
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
9
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
10
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
11 Vasodilator Agents Not Applicable
12 Bone Density Conservation Agents Not Applicable
13 Calcium, Dietary Not Applicable
14 Katacalcin Not Applicable
15 calcitonin Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Tolvaptan on Renal Plasma Flow (RPF) and Glomerular Filtration Rate (GFR) in ADPKD Completed NCT03803124 Phase 3 Tolvaptan;Placebo
2 Glyceryl-Trinitrate-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2 Completed NCT00257985 Not Applicable GTN
3 Calcitonin Gene Related Peptide-Induced Headache in Patients With Familial Hemiplegic Migraine Type 1 and 2. Completed NCT00358839 Not Applicable CGRP

Search NIH Clinical Center for Migraine, Familial Hemiplegic, 1

Genetic Tests for Migraine, Familial Hemiplegic, 1

Genetic tests related to Migraine, Familial Hemiplegic, 1:

# Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine Type 1 30 CACNA1A

Anatomical Context for Migraine, Familial Hemiplegic, 1

MalaCards organs/tissues related to Migraine, Familial Hemiplegic, 1:

42
Brain, Testes, Bone, Trigeminal Ganglion, Cerebellum, Eye

Publications for Migraine, Familial Hemiplegic, 1

Articles related to Migraine, Familial Hemiplegic, 1:

(show top 50) (show all 51)
# Title Authors Year
1
Ten years of follow-up in a large family with familial hemiplegic migraine type 1: Clinical course and implications for treatment. ( 28856914 )
2018
2
Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. ( 28900389 )
2017
3
Hyperpolarization-activated current Ih in mouse trigeminal sensory neurons in a transgenic mouse model of familial hemiplegic migraine type-1. ( 28363781 )
2017
4
Time course of downbeat positioning nystagmus in familial hemiplegic migraine type 1 treated with acetazolamide. ( 27538634 )
2016
5
Loss of inhibition by brain natriuretic peptide over P2X3 receptors contributes to enhanced spike firing of trigeminal ganglion neurons in a mouse model of familial hemiplegic migraine type-1. ( 27346147 )
2016
6
Activity-dependent calcium, oxygen, and vascular responses in a mouse model of familial hemiplegic migraine type 1. ( 27314908 )
2016
7
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice. ( 26032020 )
2015
8
Familial hemiplegic migraine type 1 associated with parkinsonism: a case report. ( 25969684 )
2015
9
Familial hemiplegic migraine type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice. ( 25481823 )
2015
10
Stress hormone corticosterone enhances susceptibility to cortical spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 25447936 )
2015
11
Calcium channels and synaptic transmission in familial hemiplegic migraine type 1 animal models. ( 28509957 )
2014
12
An altered GABA-A receptor function in spinocerebellar ataxia type 6 and familial hemiplegic migraine type 1 associated with the CACNA1A gene mutation. ( 26675662 )
2014
13
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1. ( 25274239 )
2014
14
A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1. ( 24583041 )
2014
15
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice. ( 23985897 )
2014
16
De novo mutations in epileptic encephalopathies. ( 23934111 )
2013
17
The mechanism of functional up-regulation of P2X3 receptors of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine type 1 (FHM-1). ( 23577145 )
2013
18
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels. ( 23430985 )
2013
19
Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons. ( 22190617 )
2012
20
Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels. ( 22549042 )
2012
21
Enhanced subcortical spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 21490217 )
2011
22
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. ( 20298421 )
2010
23
Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice. ( 20631222 )
2010
24
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing. ( 19586927 )
2009
25
The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature. ( 19438926 )
2009
26
Androgenic suppression of spreading depression in familial hemiplegic migraine type 1 mutant mice. ( 19847904 )
2009
27
Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1. ( 19104150 )
2009
28
FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2. ( 19007941 )
2009
29
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. ( 18400034 )
2008
30
Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family. ( 18670797 )
2008
31
Familial hemiplegic migraine type 1 shows no hypersensitivity to nitric oxide. ( 18384418 )
2008
32
Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation. ( 18313928 )
2008
33
Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation. ( 18279427 )
2008
34
Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission. ( 15699344 )
2005
35
1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1. ( 15728280 )
2005
36
Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel. ( 15795222 )
2005
37
Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects. ( 15448138 )
2004
38
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. ( 15452324 )
2004
39
Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family. ( 12707077 )
2003
40
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine. ( 12756131 )
2003
41
Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine. ( 12056940 )
2002
42
Missense CACNA1A mutation causing episodic ataxia type 2. ( 11176968 )
2001
43
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. ( 11409427 )
2001
44
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy. ( 11061267 )
2000
45
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. ( 9915947 )
1999
46
Genetic heterogeneity in Italian families with familial hemiplegic migraine. ( 10408532 )
1999
47
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia. ( 10408534 )
1999
48
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. ( 10987655 )
1999
49
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. ( 8898206 )
1996
50
Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG. ( 8734765 )
1996

Variations for Migraine, Familial Hemiplegic, 1

UniProtKB/Swiss-Prot genetic disease variations for Migraine, Familial Hemiplegic, 1:

76 (show all 15)
# Symbol AA change Variation ID SNP ID
1 CACNA1A p.Arg192Gln VAR_001491 rs121908211
2 CACNA1A p.Thr665Met VAR_001492 rs121908212
3 CACNA1A p.Val713Ala VAR_001493 rs121908213
4 CACNA1A p.Ile1809Leu VAR_001494 rs121908214
5 CACNA1A p.Arg195Lys VAR_043820 rs121908222
6 CACNA1A p.Ser218Leu VAR_043821 rs121908225
7 CACNA1A p.Arg582Gln VAR_043826 rs121908217
8 CACNA1A p.Asp714Glu VAR_043827 rs121908218
9 CACNA1A p.Lys1334Glu VAR_043829 rs121908223
10 CACNA1A p.Arg1345Gln VAR_043830 rs121908230
11 CACNA1A p.Tyr1383Cys VAR_043831 rs121908219
12 CACNA1A p.Val1455Leu VAR_043833 rs121908237
13 CACNA1A p.Arg1666Trp VAR_043838 rs121908220
14 CACNA1A p.Trp1682Arg VAR_043839 rs121908221
15 CACNA1A p.Val1694Ile VAR_063706 rs121908224

ClinVar genetic disease variations for Migraine, Familial Hemiplegic, 1:

6 (show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1A NM_001127221.1(CACNA1A): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121908211 GRCh37 Chromosome 19, 13482558: 13482558
2 CACNA1A NM_001127221.1(CACNA1A): c.575G> A (p.Arg192Gln) single nucleotide variant Pathogenic rs121908211 GRCh38 Chromosome 19, 13371744: 13371744
3 CACNA1A NM_001127221.1(CACNA1A): c.1997C> T (p.Thr666Met) single nucleotide variant Pathogenic rs121908212 GRCh37 Chromosome 19, 13414691: 13414691
4 CACNA1A NM_001127221.1(CACNA1A): c.1997C> T (p.Thr666Met) single nucleotide variant Pathogenic rs121908212 GRCh38 Chromosome 19, 13303877: 13303877
5 CACNA1A NM_001127221.1(CACNA1A): c.2141T> C (p.Val714Ala) single nucleotide variant Pathogenic rs121908213 GRCh37 Chromosome 19, 13414394: 13414394
6 CACNA1A NM_001127221.1(CACNA1A): c.2141T> C (p.Val714Ala) single nucleotide variant Pathogenic rs121908213 GRCh38 Chromosome 19, 13303580: 13303580
7 CACNA1A NM_001127221.1(CACNA1A): c.5428A> C (p.Ile1810Leu) single nucleotide variant Pathogenic rs121908214 GRCh37 Chromosome 19, 13340999: 13340999
8 CACNA1A NM_001127221.1(CACNA1A): c.5428A> C (p.Ile1810Leu) single nucleotide variant Pathogenic rs121908214 GRCh38 Chromosome 19, 13230185: 13230185
9 CACNA1A NM_001127221.1(CACNA1A): c.2145C> A (p.Asp715Glu) single nucleotide variant Pathogenic rs121908218 GRCh37 Chromosome 19, 13414390: 13414390
10 CACNA1A NM_001127221.1(CACNA1A): c.2145C> A (p.Asp715Glu) single nucleotide variant Pathogenic rs121908218 GRCh38 Chromosome 19, 13303576: 13303576
11 CACNA1A NM_001127221.1(CACNA1A): c.4151A> G (p.Tyr1384Cys) single nucleotide variant Pathogenic rs121908219 GRCh37 Chromosome 19, 13372366: 13372366
12 CACNA1A NM_001127221.1(CACNA1A): c.4151A> G (p.Tyr1384Cys) single nucleotide variant Pathogenic rs121908219 GRCh38 Chromosome 19, 13261552: 13261552
13 CACNA1A NM_001127221.1(CACNA1A): c.4366G> T (p.Val1456Leu) single nucleotide variant Pathogenic rs121908237 GRCh37 Chromosome 19, 13370403: 13370403
14 CACNA1A NM_001127221.1(CACNA1A): c.4366G> T (p.Val1456Leu) single nucleotide variant Pathogenic rs121908237 GRCh38 Chromosome 19, 13259589: 13259589
15 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 GRCh37 Chromosome 19, 13476262: 13476262
16 CACNA1A NM_001127221.1(CACNA1A): c.653C> T (p.Ser218Leu) single nucleotide variant Pathogenic rs121908225 GRCh38 Chromosome 19, 13365448: 13365448
17 CACNA1A NM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs121908217 GRCh37 Chromosome 19, 13419266: 13419266
18 CACNA1A NM_001127221.1(CACNA1A): c.1748G> A (p.Arg583Gln) single nucleotide variant Pathogenic rs121908217 GRCh38 Chromosome 19, 13308452: 13308452
19 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909324 GRCh37 Chromosome 19, 13366031: 13366031
20 CACNA1A NM_001127221.1(CACNA1A): c.4636C> T (p.Arg1546Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909324 GRCh38 Chromosome 19, 13255217: 13255217
21 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh37 Chromosome 19, 13346033: 13346033
22 CACNA1A NM_001127221.1(CACNA1A): c.5126T> C (p.Ile1709Thr) single nucleotide variant Pathogenic rs121909326 GRCh38 Chromosome 19, 13235219: 13235219
23 CACNA1A NM_001127221.1(CACNA1A): c.4037G> A (p.Arg1346Gln) single nucleotide variant Pathogenic rs121908230 GRCh37 Chromosome 19, 13373603: 13373603
24 CACNA1A NM_001127221.1(CACNA1A): c.4037G> A (p.Arg1346Gln) single nucleotide variant Pathogenic rs121908230 GRCh38 Chromosome 19, 13262789: 13262789
25 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh38 Chromosome 19, 13206442: 13224666
26 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh37 Chromosome 19, 13317256: 13335480
27 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh38 Chromosome 19, 13206442: 13224666
28 CACNA1A NG_011569.1: g.(286795_296853)_(303563_305019)del deletion Pathogenic GRCh37 Chromosome 19, 13317256: 13335480
29 CACNA1A NM_001127221.1(CACNA1A): c.2145C> G (p.Asp715Glu) single nucleotide variant not provided rs121908218 GRCh37 Chromosome 19, 13414390: 13414390
30 CACNA1A NM_001127221.1(CACNA1A): c.2145C> G (p.Asp715Glu) single nucleotide variant not provided rs121908218 GRCh38 Chromosome 19, 13303576: 13303576
31 CACNA1A NM_001127221.1(CACNA1A): c.2754G> C (p.Glu918Asp) single nucleotide variant Benign rs16022 GRCh37 Chromosome 19, 13409696: 13409696
32 CACNA1A NM_001127221.1(CACNA1A): c.2754G> C (p.Glu918Asp) single nucleotide variant Benign rs16022 GRCh38 Chromosome 19, 13298882: 13298882
33 CACNA1A NM_001127221.1(CACNA1A): c.2978A> T (p.Glu993Val) single nucleotide variant Benign rs16023 GRCh37 Chromosome 19, 13409472: 13409472
34 CACNA1A NM_001127221.1(CACNA1A): c.2978A> T (p.Glu993Val) single nucleotide variant Benign rs16023 GRCh38 Chromosome 19, 13298658: 13298658
35 CACNA1A NM_001127221.1(CACNA1A): c.3313G> A (p.Gly1105Ser) single nucleotide variant Benign rs16027 GRCh37 Chromosome 19, 13397560: 13397560
36 CACNA1A NM_001127221.1(CACNA1A): c.3313G> A (p.Gly1105Ser) single nucleotide variant Benign rs16027 GRCh38 Chromosome 19, 13286746: 13286746
37 CACNA1A NM_001127221.1(CACNA1A): c.4003A> G (p.Lys1335Glu) single nucleotide variant not provided rs121908223 GRCh37 Chromosome 19, 13373637: 13373637
38 CACNA1A NM_001127221.1(CACNA1A): c.4003A> G (p.Lys1335Glu) single nucleotide variant not provided rs121908223 GRCh38 Chromosome 19, 13262823: 13262823
39 CACNA1A NM_001127221.1(CACNA1A): c.4999C> T (p.Arg1667Trp) single nucleotide variant Pathogenic rs121908220 GRCh37 Chromosome 19, 13346499: 13346499
40 CACNA1A NM_001127221.1(CACNA1A): c.4999C> T (p.Arg1667Trp) single nucleotide variant Pathogenic rs121908220 GRCh38 Chromosome 19, 13235685: 13235685
41 CACNA1A NM_001127221.1(CACNA1A): c.5047T> C (p.Trp1683Arg) single nucleotide variant not provided rs121908221 GRCh37 Chromosome 19, 13346451: 13346451
42 CACNA1A NM_001127221.1(CACNA1A): c.5047T> C (p.Trp1683Arg) single nucleotide variant not provided rs121908221 GRCh38 Chromosome 19, 13235637: 13235637
43 CACNA1A NM_001127221.1(CACNA1A): c.5083G> A (p.Val1695Ile) single nucleotide variant not provided rs121908224 GRCh37 Chromosome 19, 13346076: 13346076
44 CACNA1A NM_001127221.1(CACNA1A): c.5083G> A (p.Val1695Ile) single nucleotide variant not provided rs121908224 GRCh38 Chromosome 19, 13235262: 13235262
45 CACNA1A NM_001127221.1(CACNA1A): c.584G> A (p.Arg195Lys) single nucleotide variant not provided rs121908222 GRCh37 Chromosome 19, 13482549: 13482549
46 CACNA1A NM_001127221.1(CACNA1A): c.584G> A (p.Arg195Lys) single nucleotide variant not provided rs121908222 GRCh38 Chromosome 19, 13371735: 13371735
47 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh37 Chromosome 19, 13397324: 13397324
48 CACNA1A NM_001127221.1(CACNA1A): c.3549C> T (p.Val1183=) single nucleotide variant Benign rs16029 GRCh38 Chromosome 19, 13286510: 13286510
49 CACNA1A NM_001127221.1(CACNA1A): c.2094G> A (p.Thr698=) single nucleotide variant Benign rs16016 GRCh37 Chromosome 19, 13414594: 13414594
50 CACNA1A NM_001127221.1(CACNA1A): c.2094G> A (p.Thr698=) single nucleotide variant Benign rs16016 GRCh38 Chromosome 19, 13303780: 13303780

Expression for Migraine, Familial Hemiplegic, 1

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