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Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants
49/49 checkable references clean · checked 2026-07-26
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
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The 49 checked references that resolve
resolves10.1016/S1474-4422(11)70048-5
Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management
resolves10.1177/0333102418761041
The contribution of
<i>CACNA1A, ATP1A2</i>
and
<i>SCN1A</i>
mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families
resolves10.1212/WNL.0b013e3182752ca2
<i>PRRT2</i>
mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
resolves10.1111/j.1469-8749.2012.04394.x
Familial
<i>PRRT2</i>
mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
resolves10.1038/ng.1008
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
resolves10.1093/brain/awr289
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
resolves10.1016/j.ajhg.2011.12.003
PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
resolves10.1038/jhg.2012.23
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
resolves10.1016/j.celrep.2016.03.005
PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery
resolves10.1093/brain/awy051
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity
resolves10.1016/j.parkreldis.2014.10.012
PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia
resolves10.1093/hmg/ddh330
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
resolves10.1001/archneur.61.7.1025
Myofibrillogenesis Regulator 1 Gene Mutations Cause Paroxysmal Dystonic Choreoathetosis
resolves10.1177/0333102414532379
A novel
<i>SLC2A1</i>
mutation linking hemiplegic migraine with alternating hemiplegia of childhood
resolves10.1038/ng0298-188
GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
resolves10.1038/s41598-017-14176-4
Impaired K+ binding to glial glutamate transporter EAAT1 in migraine
resolves10.1212/01.WNL.0000172638.58172.5a
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
resolves10.1073/pnas.1008705107
Defective membrane expression of the Na
<sup>+</sup>
-HCO
<sub>3</sub>
<sup>−</sup>
cotransporter NBCe1 is associated with familial migraine
resolves10.1038/15440
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities
resolves10.1371/journal.pone.0157613
CADASIL: Migraine, Encephalopathy, Stroke and Their Inter-Relationships
resolves10.1002/mgg3.196
Next‐generation sequencing identifies novel <i><scp>CACNA</scp>1A</i> gene mutations in episodic ataxia type 2
resolves10.3390/ijms19103113
Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity
resolves10.1038/nm.2216
A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura
resolves10.1038/gim.2015.30
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
resolves10.1212/WNL.0000000000004966
Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation
resolves10.1016/j.parkreldis.2013.02.015
A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees
resolves10.1097/YPG.0b013e328341a307
Genetic and functional studies of a missense variant in a glutamate transporter, SLC1A3, in Tourette syndrome
resolves10.1111/jpc.12613
Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature
resolves10.1113/jphysiol.2005.084988
Critical amino acid residues involved in the electrogenic sodium–bicarbonate cotransporter kNBC1‐mediated transport
resolves10.1002/ana.1031
Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine
resolves10.1136/jmg.2003.017863
A novel mutation in the <i>ATP1A2</i> gene causes alternating hemiplegia of childhood
resolves10.1186/s13023-015-0335-5
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients
resolves10.1016/S0378-1119(02)00647-9
Physical mapping and characterization of the human Na,K-ATPase isoform, ATP1A4
resolves10.1136/jmedgenet-2019-106640
Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine
resolves10.1111/dmcn.12396
Benefit of carbamazepine in a patient with hemiplegic migraine associated with <i><scp>PRRT</scp>2</i> mutation
The 2 references without a DOI — listed, not checked
no DOI — not checkedTargeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine
no DOI — not checkedHemiplegic Migraine as the Initial Presentation of Biopsy Positive Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy
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