https://ichd-3.org/
Author archives: Alberto Alcantud
Child Muscle Weakness
On the Child Muscle Weakness website, a detection algorithm and training videos for the identification of neuromuscular symptoms in the pediatric age can be found.
Epilepsioma. Genetics in epilepsy.
The ILAE commission for genetics in epilepsy has a blog called Beyond the Ion Channel, with reviews on the different genes involved in epilepsy: The Epilepsiome.
Epilepsy Diagnosis
The ILAE has a website called EpilepsyDiagnosis, with information on the different epilepsy syndromes and their diagnostic criteria, EEG features, neuroimaging, and genetics, as well as the pharmacological treatments indicated in each case. Registration is free, and once inside the user section, a video atlas is available to view the semiology of …
Human Phenotype Ontology
Currently, the use of computerized tools for information search makes it necessary to use standardized and coded nomenclature to refer to the dysmorphic signs that are part of the clinical phenotype. A significant effort has been made to systematize this nomenclature, adding an HPO code that can be searched on the Human … website.
Decipher Genome Browser
Method of use: In your comparative genomic hybridization array report, there will be a table with the CNVs identified in the patient. In each CNV, the chromosome on which it is located will be identified, as well as the start and end nucleotide positions (usually numbers on the order of a million …
Nutritional assessment
The nutritional assessment of children with chronic neurological diseases presents several difficulties. Qualitative problems related to nutrition:
Phenomyzer
Phenomyzer is a phenotyping tool from Charité Universitätsmedizin Berlin.
Neonatal MRI
M. Rutherford's neonatal MRI book is accessible on the web for free, being an indispensable guide for the diagnosis and learning of neonatal neurology.
Learning EEG
Multiple EEG online resources and atlases exist, but the LearningEEG website is especially aimed at learning in a simple and practical way.