Category archives: Clinical guide
Early onset cerebellar ataxias.
Non-progressive congenital ataxia.
Pharmacological treatment protocol for GLS.
Table of diseases in genereviews.
Angelman-like syndrome.
Angelman-like syndrome Angelman-like syndrome is a neurogenetic disorder characterized by a series of signs and symptoms that resemble Angelman syndrome, but with important variations. Although the two syndromes share many similar characteristics, there are subtle differences that can help distinguish them clinically. Clinical Context Angelman-like syndrome is a neurogenetic disorder that affects...
Hemicerebellitis.
Hemicerebellitis Introduction: Hemicerebellitis is an inflammation of the cerebellum that affects one side of the brain. It is a serious neurological condition that can cause a variety of symptoms, from headaches to balance and mobility problems. Diagnostic Criteria The diagnosis of hemicerebellitis is based on a set of clinical and ophthalmological criteria: Clinical Symptoms: …
Technical aids.
Precision medicine in genetic epilepsy.
Medicina de Precisión en Epilepsia Genética y Encefalopatías del Desarrollo (DEEs) La medicina de precisión en las encefalopatías del neurodesarrollo y epilépticas (DEEs) busca dirigir el tratamiento farmacológico hacia el mecanismo fisiopatológico y molecular subyacente a la variante genética del paciente, evitando terapias ineficaces o perjudiciales. Desglose Clínico de los Abordajes Terapéuticos Representados A continuación …
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SCNx database.
SCNx Database: A Rigorous Clinical Guide SCN Portal is an online database developed by the Broad Institute that provides information on the genetics and biology of sleep. This tool is valuable to medical professionals, especially neuropediatricians, as it offers a detailed resource on the spectrum of disorders…