Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.12.007
Abstract: OBJECTIVE To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment. METHODS Using the literature, we investigated clinical details of FHM in… read more here.
Keywords: treatment; familial hemiplegic; prrt2 mutation; hemiplegic migraine ... See more keywords
Hemiplegic migraine and stroke in Mary Shelley
Sign Up to like & getrecommendations! Published in 2018 at "The Lancet Neurology"
DOI: 10.1016/s1474-4422(18)30082-6
Abstract: Mary Wollstonecraft Godwin Shelley (1797–1851) was the author of Frankenstein; or, the Modern Prometheus. In 1839, she had recurrent, severe headaches whose severity, location, and duration were variable.1 These headaches were associated with dizziness; pain… read more here.
Keywords: neurology; stroke mary; shelley; mary shelley ... See more keywords
Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Neuropediatrics"
DOI: 10.1055/a-1863-1798
Abstract: Microdeletion in the 16p11.2 loci lead to a distinct neurodevelopmental disorder with intellectual disability and autism spectrum disorder in addition to dysmorphia, macrocephaly and increased body mass index (BMI). One of the deleted genes in… read more here.
Keywords: haploinsufficiency prrt2; hemiplegic migraine; familial hemiplegic; migraine ... See more keywords
Advance in genetics of migraine
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Neurology"
DOI: 10.1097/wco.0000000000000687
Abstract: Purpose of review Migraine is a primary headache disorder and one of the most common and disabling neurological diseases worldwide. Genome-wide association studies have identified ≈40 genetic loci associated with migraine. How these and other… read more here.
Keywords: common migraine; genetics migraine; migraine; genetics ... See more keywords
The digiti quinti sign in hemiplegic migraine: An fMRI study
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neuroimaging"
DOI: 10.1111/jon.12981
Abstract: The digiti quinti sign (DQS) consists of a wider angle between the fourth and fifth fingers (ANG) indicative of subtle hemiparesis that has been found interictally in hemiplegic migraine (HM), suggesting a permanent subtle motor… read more here.
Keywords: hemiplegic migraine; quinti sign; study; digiti quinti ... See more keywords
SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine
Sign Up to like & getrecommendations! Published in 2023 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200062
Abstract: Background and Objectives Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome (OMIM 617140) is a recently identified neurodevelopmental disorder caused by heterozygous loss-of-function (LoF) variants in SON. Because the SON protein functions as an RNA-splicing regulator, it has been shown… read more here.
Keywords: son; recurrent hemiplegic; hemiplegic migraine; zttk syndrome ... See more keywords
Teaching NeuroImages: Magnetic resonance perfusion and diffusion findings in hemiplegic migraine
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000010249
Abstract: A 6-year-old boy presented with acute onset of left-sided weakness and homonymous hemianopia in the setting of 3 days of severe, unilateral, pulsating headache. MRI 3 hours after symptom onset showed hypoperfusion of the entire… read more here.
Keywords: teaching neuroimages; resonance perfusion; diffusion; neuroimages magnetic ... See more keywords
Deciphering in silico the Role of Mutated NaV1.1 Sodium Channels in Enhancing Trigeminal Nociception in Familial Hemiplegic Migraine Type 3
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2021.644047
Abstract: Familial hemiplegic migraine type 3 (FHM3) is caused by gain-of-function mutations in the SCN1A gene that encodes the α1 subunit of voltage-gated NaV1.1 sodium channels. The high level of expression of NaV1.1 channels in peripheral… read more here.
Keywords: migraine; familial hemiplegic; nav1 sodium; migraine type ... See more keywords
CACNA1A-Linked Hemiplegic Migraine in GLUT 1 Deficiency Syndrome: A Case Report
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2021.679354
Abstract: Background: Glucose-transporter-1 deficiency syndrome (GLUT1-DS), due to SLC2A1 gene mutation, is characterized by early-onset seizures, which are often drug-resistant, developmental delay, and hypotonia. Hemiplegic migraine (HM) is a rare form of migraine, defined by headache… read more here.
Keywords: migraine; deficiency syndrome; hemiplegic migraine; cacna1a ... See more keywords
Changes in Plasma Lipid Levels Following Cortical Spreading Depolarization in a Transgenic Mouse Model of Familial Hemiplegic Migraine
Sign Up to like & getrecommendations! Published in 2022 at "Metabolites"
DOI: 10.3390/metabo12030220
Abstract: Metabolite levels in peripheral body fluids can correlate with attack features in migraine patients, which underscores the potential of plasma metabolites as possible disease biomarkers. Migraine headache can be preceded by an aura that is… read more here.
Keywords: cortical spreading; hemiplegic migraine; migraine; spreading depolarization ... See more keywords
Ocular Dipping in a Patient With Hemiplegic Migraine.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20171129-01
Abstract: A 5-year-old girl presented with acute, rapidly progressive encephalopathy following minor head trauma and was found to have ocular dipping. Her encephalopathy was secondary to a channelopathy caused by a CACNA1A mutation. This is the… read more here.
Keywords: ophthalmology; dipping patient; hemiplegic migraine; ocular dipping ... See more keywords