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Structural brain MRI abnormalities in SCN1A-, SCN2A-, SCN3A-, and SCN8A-related epilepsies: a cohort study

Frontiers in Neurology
PurposeTo characterize the prevalence and patterns of structural brain magnetic resonance imaging (MRI) abnormalities in children with genetically confirmed SCN1A-, SCN2A-, SCN3A-, or SCN8A-related epilepsy and to identify genotype-specific imaging ...
Daewoong Ahn +13 more
doaj +1 more source

Texas Physicians\u27 Awareness and Utilization of Genetic Services [PDF]

, 2015
The number of disorders for which genetic testing is available has increased nearly 500% in the past 15 years. Access to the majority of genetic tests and services hinges on physicians’ ability to identify patients at risk for genetic disease and provide
Jenevein, Callie L
core +1 more source

A Case of Cerebral Folate Deficiency due to FOLR1 Mutation in a 10‐Year‐Old Girl: Clinical Presentation and Treatment Outcomes

Clinical Case Reports
Cerebral folate deficiency (CFD) is characterized by reduced levels of folate, particularly 5‐methyltetrahydrofolate (5‐MTHF), in the cerebrospinal fluid (CSF). This case report describes a 10‐year‐old girl diagnosed with CFD due to a pathogenic mutation
Farzad Ahmadabadi +4 more
doaj +1 more source

Familial Mediterranean Fever: Perspective and Round on Uncertainties

Dubai Medical Journal
Introduction: Familial Mediterranean fever (FMF) is a hereditary periodic fever characterized by its autosomal recessive nature. The complexity of its presentation and response to treatment poses significant challenges in diagnosing and managing FMF ...
Haifa Ali Bin Dahman +2 more
doaj +1 more source

Genetic Library: Cancer Genetics [PDF]