Notable Mutations Database Este recurso proporciona un registro actualizado de las variantes patogénicas y mutaciones genéticas que presentan un impacto clínico relevante o interés científico destacado en neuropediatría y genética del neurodesarrollo. Incluye anotaciones detalladas sobre variantes en canales iónicos (SCN1A, KCNQ2) y transportadores neuronales con correlación fenotípica directa.
Author archives: Alberto Alcantud
Disfemia-stuttering.
Website of the Spanish Stuttering Foundation with specific resources for the pediatric age group.
Springer video atlas of movement disorders.
Click on the icon in the right corner to access one of the 97 posted videos.
Guide for teachers on child neurology.
Tik Tok tics.
Dystonia myoclonus, not all tics.
Genetics of movement disorders.
The MDSGene website contains a directory of currently well-established movement disorders of genetic origin.
Massive sequencing techniques.
Under the concept of massive sequencing or NGS (next generation sequencing) there are multiple highly complex diagnostic techniques that have significantly increased the diagnostic possibilities in pediatric neurology. We can classify them based on several criteria. https://link.springer.com/chapter/10.1007/978-981-13-8844-6_15
Neurocutaneous syndromes.
Aplasia cutis congenita. Nevus sebaceous of Jadassohn. Epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome. Pringle-Bourneville syndrome (tuberous sclerosis). Neurofibromatosis type 1 (von Recklinghausen). Incontinentia pigmenti. Congenital melanocytic nevus. Neurocutaneous melanosis. Xeroderma pigmentosum. Cockayne syndrome. Ehlers-Danlos syndrome. Klippel-Trenaunay-Weber syndrome. Proteus syndrome. Sjögren-Larsson syndrome. Sturge-Weber syndrome. Blue rubber bleb nevus syndrome. Incontinentia pigmenti …
Double trouble. Several genetic diseases in the same individual.
In the era of massive sequencing, access to the intensive study of the genome has provided a much deeper understanding of genetic variability, and how this can give rise to complex phenotypes from the combination of several monogenetic diseases in the same individual. It is estimated that in approximately 5% of …
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