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A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Ca2.1 P/Q-type channel gating.
Mol Brain
November 2024
Michael Smith Laboratories, University of British Columbia, 2185 East Mall, Vancouver, BC, V6T 1Z4, Canada.
P/Q-type (Ca2.1) calcium channels mediate Ca influx essential for neuronal excitability and synaptic transmission. The CACNA1A gene, encoding the Ca2.
View Article and Find Full Text PDFVoltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.
Cells
October 2024
Institut de Recherches Servier, Rue Francis Perrin, 91190 Gif-sur-Yvette, France.
Developmental and Epileptic Encephalopathies (DEEs) represent a clinically and genetically heterogeneous group of rare and severe epilepsies. DEEs commonly begin early in infancy with frequent seizures of various types associated with intellectual disability and leading to a neurodevelopmental delay or regression. Disease-causing genomic variants have been identified in numerous genes and are implicated in over 100 types of DEEs.
View Article and Find Full Text PDFIntellectual Disability in Episodic Ataxia Type 2: Beyond Paroxysmal Vertigo and Ataxia.
J Clin Neurol
November 2024
Biomedical Research Institute, Seoul National University Bundang Hospital, Seongnam, Korea.
Article Synopsis
- Episodic ataxia type 2 (EA2) is a genetic disorder causing dizziness and coordination issues, linked to mutations in the calcium channel gene; this study focused on assessing intellectual abilities in affected individuals.
- Researchers evaluated 13 patients in South Korea using the Wechsler Intelligence Scales and found that most had below-average IQ scores, with significant cognitive deficits across multiple areas.
- The findings suggest that individuals with EA2 may experience hidden intellectual disabilities unrelated to epilepsy; therefore, early diagnosis and management are crucial to prevent further brain function decline and may benefit from genetic counseling.
Neurological and Systemic Pitfalls in the Diagnosis of Cluster Headaches: A Case-Based Review.
Curr Neurol Neurosci Rep
December 2024
Department of Neurology, Vivekananda Institute of Medical Science, Kolkata, West Bengal, India.
Article Synopsis
- The review highlights common mistakes in diagnosing primary cluster headaches (CHs) using seven case examples to illustrate these pitfalls.
- Recent findings suggest that while CHs and migraines share some similarities, such as genetic factors and autonomic features, they also have distinct characteristics that can aid in differentiation.
- Key clinical features, such as restlessness during attacks, are crucial for diagnosing CHs and distinguishing them from other headache disorders, particularly within the group of Trigeminal Autonomic Cephalalgias (TACs).
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).
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