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Childhood Migraine Variants

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SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.

Andreas Brunklaus, Stephanie Schorge, Alexander D Smith, Ismael Ghanty, Kirsty Stewart, Sarah Gardiner, Juanjiangmeng Du, Eduardo Pérez-Palma, Joseph D Symonds, Abby C Collier, Dennis Lal, Sameer M Zuberi,

Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS). Predicting disease outcomes based on variant type remains challenging. Despite thousands of SCN1A variants being reported, only ... Read more >>

Hum. Mutat. (Human mutation)
[2019, :]

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SCN1A-related phenotypes: Epilepsy and beyond.

Ingrid E Scheffer, Rima Nabbout,

SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal channelopathy associated with a wide phenotypic spectrum of epilepsies ranging from genetic epilepsy with febrile seizures plus (GEFS+), to developmental and epileptic encephalopathies (DEEs). ... Read more >>

Epilepsia (Epilepsia)
[2019, 60 Suppl 3:S17-S24]

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Predicting the impact of sodium channel mutations in human brain disease.

Jeffrey L Noebels,

Genetic alteration of the sodium channel provides a remarkable opportunity to understand how epilepsy and its comorbidities arise from a molecular disease of excitable membranes, and a chance to create a better future for children with epileptic encephalopathy. In a single cell, the channel reliably acts as a voltage-sensitive switch, ... Read more >>

Epilepsia (Epilepsia)
[2019, 60 Suppl 3:S8-S16]

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SCN1A/NaV 1.1 channelopathies: Mechanisms in expression systems, animal models, and human iPSC models.

Massimo Mantegazza, Vania Broccoli,

Pathogenic SCN1A/NaV 1.1 mutations cause well-defined epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and the severe epileptic encephalopathy Dravet syndrome. In addition, they cause a severe form of migraine with aura, familial hemiplegic migraine. Moreover, SCN1A/NaV 1.1 variants have been inferred as risk factors in other types of ... Read more >>

Epilepsia (Epilepsia)
[2019, 60 Suppl 3:S25-S38]

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Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

C Anwar A Chahal, Mohammad N Salloum, Fares Alahdab, Joseph A Gottwald, David J Tester, Lucman A Anwer, Elson L So, Mohammad Hassan Murad, Erik K St Louis, Michael J Ackerman, Virend K Somers,

Background Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related death. SUDEP shares many features with sudden cardiac death and sudden unexplained death in the young and may have a similar genetic contribution. We aim to systematically review the literature on the genetics of SUDEP. Methods and ... Read more >>

J Am Heart Assoc (Journal of the American Heart Association)
[2020, 9(1):e012264]

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Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Federica Graziola, Giacomo Garone, Fabrizia Stregapede, Luca Bosco, Federico Vigevano, Paolo Curatolo, Enrico Bertini, Lorena Travaglini, Alessandro Capuano,

In recent years, genetic techniques of diagnosis have shown rapid development, resulting in a modified clinical approach to many diseases, including neurological disorders. Movement disorders, in particular those arising in childhood, pose a diagnostic challenge. First, from a purely phenomenological point of view, the correct clinical classification of signs and ... Read more >>

Front Genet (Frontiers in genetics)
[2019, 10:1026]

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A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Nicolas Chatron, Sara Cabet, Eudeline Alix, Annie Buenerd, Phillip Cox, Laurent Guibaud, Audrey Labalme, Peter Marks, Deborah Osio, Audrey Putoux, Damien Sanlaville, Gaetan Lesca, Alexandre Vasiljevic,

Polymicrogyria is a heterogeneous malformation of cortical development microscopically defined by an excessive folding of the cortical mantle resulting in small gyri with a fused surface. Polymicrogyria is responsible for a wide range of neurological symptoms (e.g. epilepsy, intellectual disability, motor dysfunction). Most cases have a supposed environmental clastic vascular ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(11):3367-3374]

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Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim,

Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in epilepsy patients whose seizures began within the first year after birth. We included 112 patients with seizure onset before 12 months and no known etiology. Methods: Deep targeted sequencing with a custom-designed capture probe was performed ... Read more >>

Front Neurol (Frontiers in Neurology)
[2019, 10:988]

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Unusual Phenotype and Disease Trajectory in Kearns-Sayre Syndrome.

Josef Finsterer, Michael Winklehner, Claudia Stöllberger, Thomas Hummel,

Objective:To describe unusual course and unusual phenotypic features in an adult patient with Kearns-Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and ophthalmoparesis, and the complementary features, namely, elevated ... Read more >>

Case Rep Neurol Med (Case reports in neurological medicine)
[2020, 2020:7368527]

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Risk Factors for Recurrent Arterial Ischemic Stroke in Children and Young Adults.

Beata Sarecka-Hujar, Ilona Kopyta,

Arterial ischemic stroke (AIS) experienced at a young age is undoubtedly a serious medical problem. AIS very rarely occurs at a developmental age, whereas in young adults, it occurs with a higher frequency. The etiologic mechanisms of AIS occurring in childhood and adulthood differ. However, for both age populations, neurological ... Read more >>

Brain Sci (Brain sciences)
[2020, 10(1):]

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MRI Findings in Children with Headache Seen in a Third-Level Centre.

Matteo Chiappedi, Anna Pichiecchio, Martina Maria Mensi, Umberto Balottin,

Psychiatry Investig (Psychiatry investigation)
[2019, 16(10):789-790]

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Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Giulia Barcia, Zahra Assouline, Alessandra Pennisi, Julie Steffann, Nathalie Boddaert, Cyril Gitiaux, Agnès Rötig, Jean-Paul Bonnefont, Arnold Munnich,

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2019, 21:100522]

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The Blood Levels of Trace Elements Are Lower in Children With Tic Disorder: Results From a Retrospective Study.

Ruiying Qian, Ying Ma, Liuqing You, Yanmin Zhao, Shuxian Li, Jue Shen, Lihua Jiang, Cuiwei Yang, Peifang Jiang, Zhefeng Yuan, Feng Gao, Shanshan Mao,

Background: Tic disorders (TD) are common neuropsychiatric disorders among children and adolescents. It is controversial that trace elements may participate in the pathogenesis of TD. Our study aimed to investigate the trace elements status of zinc (Zn), copper (Cu), iron (Fe), and magnesium (Mg) in children with TD, in comparison ... Read more >>

Front Neurol (Frontiers in neurology)
[2019, 10:1324]

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A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy).

Bianca R Grosz, Natasha B Golovchenko, Melina Ellis, Kishore Kumar, Garth A Nicholson, Anthony Antonellis, Marina L Kennerson,

EGR2 (early growth response 2) is a crucial transcription factor for the myelination of the peripheral nervous system. Mutations in EGR2 are reported to cause a heterogenous spectrum of peripheral neuropathy with wide variation in both severity and age of onset, including demyelinating and axonal forms of Charcot-Marie Tooth (CMT) ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):19336]

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The disappearance of white matter in an adult-onset disease: a case report.

Cyrus Sh Ho, Simone Mangelsdorf, Mark Walterfang,

BACKGROUND:Vanishing white matter disease (VWMD) is one of the most prevalent hereditary white matter diseases in childhood, but it is increasingly recognised in adulthood with high phenotypic variation and severity. CASE PRESENTATION:We report a case of an adult female presenting with emotional lability and cognitive impairment, in addition to progressive ... Read more >>

BMC Psychiatry (BMC psychiatry)
[2020, 20(1):137]

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Recurrent Painful Ophthalmoplegic Neuropathy and Oculomotor Nerve Schwannoma: A Pediatric Case Report with Long-Term MRI Follow-Up and Literature Review.

Maria Giuseppina Petruzzelli, Mariella Margari, Flora Furente, Maria Carmela Costanza, Anna Rosi Legrottaglie, Franca Dicuonzo, Lucia Margari,

Background:Recurrent painful ophthalmoplegic neuropathy (RPON), previously known as ophthalmoplegic migraine (OM), is an uncommon disorder with repeated episodes of ocular cranial nerve neuropathy associated with ipsilateral headache. The age of presentation is most often during childhood or adolescence. MRI has a central role in the assessment of the RPON, especially ... Read more >>

Pain Res Manag (Pain research & management)
[2019, 2019:5392945]

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Tics and Tourette’s syndrome.

Shivam Om Mittal,

Tics and Tourette’s syndrome are common hyperkinetic movement disorders seen mostly in the pediatric age group. Tics are defined as sudden, rapid, recurrent, nonrhythmic motor movements or vocalization, generally preceded by urge. Tourette’s syndrome is defined as the presence of both motor and phonic tics for more than 1 year ... Read more >>

Drugs Context (Drugs in Context)
[2020, 9:]

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Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children.

Yazeid Alhaidan, Martin J Larsen, Anders Jørgen Schou, Maria H Stenlid, Mohammed A Al Balwi, Henrik Thybo Christesen, Klaus Brusgaard,

Unexplained or idiopathic ketotic hypoglycemia (KH) is the most common type of hypoglycemia in children. The diagnosis is based on the exclusion of routine hormonal and metabolic causes of hypoglycemia. We aimed to identify novel genes that cause KH, as this may lead to a more targeted treatment. Deep phenotyping ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):2114]

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Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.

Josef Finsterer, Franco Laccone,

OPA1 variants most frequently manifest phenotypically with pure autosomal dominant optic atrophy (ADOA) or with ADOA plus. The most frequent abnormalities in ADOA plus in addition to the optic nerve affection include hypoacusis, migraine, myopathy, and neuropathy. Hypertelorism and atrophy of the acoustic nerve have not been reported. The patient ... Read more >>

Metab Brain Dis (Metabolic brain disease)
[2019, 34(4):1023-1027]

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Third Window Syndrome: Surgical Management of Cochlea-Facial Nerve Dehiscence.

P Ashley Wackym, Carey D Balaban, Pengfei Zhang, David A Siker, Jasdeep S Hundal,

Objective: This communication is the first assessment of outcomes after surgical repair of cochlea-facial nerve dehiscence (CFD) in a series of patients. Pre- and post-operative quantitative measurement of validated survey instruments, symptoms, diagnostic findings and anonymous video descriptions of symptoms in a cohort of 16 patients with CFD and third ... Read more >>

Front Neurol (Frontiers in neurology)
[2019, 10:1281]

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Pituitary Adenylate Cyclase-Activating Polypeptide: 30 Years in Research Spotlight and 600 Million Years in Service.

Viktoria Denes, Peter Geck, Adrienn Mester, Robert Gabriel,

Emerging from the depths of evolution, pituitary adenylate cyclase-activating polypeptide (PACAP) and its receptors (i.e., PAC1, VPAC1, VPAC2) are present in multicellular organisms from Tunicates to humans and govern a remarkable number of physiological processes. Consequently, the clinical relevance of PACAP systems spans a multifaceted palette that includes more than ... Read more >>

J Clin Med (Journal of clinical medicine)
[2019, 8(9):]

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Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.

Eric D Gaier, Inderneel Sahai, Janey L Wiggs, Brian McGeeney, Jodi Hoffman, Crandall E Peeler,

Purpose: To describe and distinguish clinical phenotypes with the overlapping feature of optic atrophy caused by distinct mutations in the same gene, OPA3. We report 3 affected siblings in a consanguineous family harboring a novel OPA3 mutation causing 3-methylglutaconic aciduria type III with optic atrophy.Methods: Retrospective case series.Results: Three siblings ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2019, 40(6):570-573]

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Tourette syndrome research highlights from 2018.

Olivia Rose, Andreas Hartmann, Yulia Worbe, Jeremiah M Scharf, Kevin J Black,

This is the fifth yearly article in the Tourette Syndrome Research Highlights series, summarizing research from 2018 relevant to Tourette syndrome and other tic disorders. The authors briefly summarize reports they consider most important or interesting. The  highlights from 2019 article is being drafted on the Authorea online authoring platform, and ... Read more >>

F1000Res (F1000Research)
[2019, 8:988]

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Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.

R Barbieri, S Bertelli, M Pusch, P Gavazzo,

BACKGROUND:Familial hemiplegic migraine (FHM) is a group of genetic migraine, associated with hemiparesis and aura. Three causative different genes have been identified, all of which are involved in membrane ion transport. Among these, SCN1A encodes the voltage-gated Na+ channel Nav1.1, and FHM caused by mutations of SCN1A is named FHM3. ... Read more >>

J Headache Pain (The journal of headache and pain)
[2019, 20(1):107]

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Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach.

Dieuwerke R Dijk, Gianni Bocca, Conny M van Ravenswaaij-Arts,

CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital hypoplasia, Ear anomalies including hearing loss) syndrome is a rare syndrome with an incidence of approximately 1:15,000 newborns. It is caused by pathogenic variants in the CHD7 gene and clinically characterized by a ... Read more >>

J Multidiscip Healthc (Journal of multidisciplinary healthcare)
[2019, 12:607-620]

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