Results 51 to 60 of about 2,293 (187)
Diagnóstico molecular de cavernomatosis cerebral
Neurología, 2017 Resumen: Introducción: Las malformaciones cavernosas cerebrales (CCM; OMIM 116860) son engrosamientos cavernosos vasculares sin intervención del parénquima cerebral con una prevalencia estimada en la población general del 0,1-0,5%.
R. Mondejar, M. Lucas
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Is Location Everything? Regulation of the Endothelial CCM Signaling Complex
Frontiers in Cardiovascular Medicine, 2022 Recent advances have steadily increased the number of proteins and pathways known to be involved in the development of cerebral cavernous malformation (CCM).
Harsha Swamy, Angela J. Glading
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Molecular diagnosis in cerebral cavernous malformations
Neurología (English Edition), 2017 Introduction: Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%.
R. Mondejar, M. Lucas
doaj +1 more source
Clinicoradiologic data of familial cerebral cavernous malformation with age‐related disease burden
Annals of Clinical and Translational Neurology, 2023 Objective Familial cerebral cavernous malformation (FCCM) is an autosomal dominant disease induced by loss‐of‐function mutations in three CCM genes, KRIT1, CCM2, and PDCD10.
Seondeuk Kim +8 more
doaj +1 more source
Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source
, 2005 Cerebral cavernous malformations (CCMs) are sporadically acquired or inherited vascular lesions of the central nervous system consisting of clusters of dilated thin-walled blood vessels that predispose individuals to seizures and stroke.
Abell, Amy N. +3 more
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Estudios genéticos en pacientes y familias con sospecha de enfermedades neurovasculares hereditarias
Kranion, 2023 Introducción: Las enfermedades neurovasculares minoritarias como CADASIL, cavernomatosis múltiple familiar o arteriopatía de moyamoya requieren un abordaje diagnóstico multidisciplinario que incluya un panel genético.
Sara Banda +21 more
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Coexistence of Ebstein Anomaly and Cerebral Cavernous Malformation: A Case Report
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT In most patients who have Ebstein anomaly (EA), neurological symptoms are either associated with thromboembolic episodes or due to arrhythmic complications. Cerebral cavernous malformation (CCM) is a vascular anomaly made up of sinusoidally dilated blood vessels, often presenting with seizure activity or intracranial bleeding.
Nazmin Ahmed +5 more
wiley +1 more source
JCI Insight, 2023 Loss-of-function mutations in cerebral cavernous malformation (CCM) genes and gain-of-function mutation in the MAP3K3 gene encoding MEKK3 cause CCM. Deficiency of CCM proteins leads to the activation of MEKK3-KLF2/4 signaling, but it is not clear how ...
Xi Yang +13 more
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, 2019 Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic
Christiane D. Much (7889807) +11 more
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