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Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.
Mov Disord
December 2024
Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Article Synopsis
- * The study involved whole-exome sequencing of 476 cases to discover candidate genes, leading to the identification of variants in the KCNJ10 gene, which were found in 3.07% of patients.
- * KCNJ10 variants were linked to milder PKD symptoms and impaired potassium channel function, impacting neuronal excitability and resulting in motor coordination issues in a mouse model, suggesting a possible genetic basis for PKD.
Efficacy of galcanezumab in proline-rich transmembrane protein 2 (PRRT2)-associated familial hemiplegic migraine: A case series.
Headache
September 2024
Neurology Section, Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Background: Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Variants in calcium voltage-gated channel subunit alpha1 A (CACNA1A), ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), and sodium voltage-gated channel alpha subunit 1 (SCN1A) genes have a well-established association with the development of FHM. Recent studies suggest that other genes may also have a significant role in the pathogenesis of FHM, including proline-rich transmembrane protein 2 (PRRT2).
View Article and Find Full Text PDF[Contribution of the Ibero-American Academy of Neuropediatrics to the knowledge of self-limited epilepsy in infants].
Medicina (B Aires)
September 2024
Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. E-mail:
Since the first presentation at the IV Iberoamerican Academy of Neuropediatrics Congress in 1995, our group has studied self-limited infantile epilepsy (SeLIE), both familial and non-familial, corroborating that they belong to the same entity due to their clinical and electroencephalographic characteristics and excellent prognosis. Associations were found with paroxysmal dyskinesias and migraine, as well as with hemiplegic migraine, episodic ataxia and intellectual disability in atypical cases. Mutations in PRRT2 are the main cause of SeLIE, however, other genes, such as SCN2A, KCNQ2-3 and SCN8A, have been recognized.
View Article and Find Full Text PDFFamilial hemiplegic migraine.
Handb Clin Neurol
August 2024
Wolfson Sensory, Pain and Regeneration Research Centre (SPaRRC), Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom. Electronic address:
Hemiplegic migraine consists of attacks of migraine with aura that includes reversible motor weakness. It is classified as familial or sporadic depending on the involvement or not of a first or second degree relative. The most described subtypes of familial hemiplegic migraine include FHM1, FHM2, and FHM3.
View Article and Find Full Text PDFInherited Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Neurol Genet
October 2024
From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.
Objectives: Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants in cause the neurodevelopmental disorder PURA syndrome that has a variable phenotype but typically comprises moderate-to-severe global developmental delay, intellectual disability, early-onset hypotonia and hypothermia, epilepsy, feeding difficulties, movement disorders, and subtle facial dysmorphism. Speech is reportedly absent in most, but the specific linguistic phenotype is not well described.
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