Developmental and epileptic encephalopathies

IE Scheffer, S Zuberi, HC Mefford, R Guerrini… - Nature Reviews …, 2024 - nature.com
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …

[HTML][HTML] The missing hallmark of health: psychosocial adaptation

C López-Otín, G Kroemer - Cell Stress, 2024 - ncbi.nlm.nih.gov
The eight biological hallmarks of health that we initially postulated (Cell. 2021 Jan 7; 184 (1):
33-63) include features of spatial compartmentalization (integrity of barriers, containment of …

[PDF][PDF] Epilepsia na infância: Impactos no desenvolvimento neuropsicomotor de crianças afetadas: Epilepsy in childhood: Impacts on the neuropsychomotor …

MC de Brito Neto, GF Rolim… - Revista …, 2024 - pdfs.semanticscholar.org
O desafio global da Epilepsia Infantil (EI) destaca-se como uma questão significativa na
área da saúde infantil. Com milhões de crianças em todo o mundo afetadas por essa …

Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases

P Agrawal, KE Schmitz-Abe, Q Li, S Greene, M Borrelli… - bioRxiv, 2024 - biorxiv.org
Publicly available genomic databases and genetic constraint scores are crucial in
understanding human population variation and the identification of variants that are likely to …

[PDF][PDF] ASPECTOS CLÍNICOS, DIAGNÓSTICO E TRATAMENTO DA EPILEPSIA MIOCLÔNICA JUVENIL

ÉL Menegat¹, FD Calza¹, FR Muhl¹, IP Argenta… - sistema.editorapasteur.com.br
A epilepsia é um conjunto de distúrbios que se caracterizam por períodos espontâneos de
atividade neuronal síncrona excessiva em forma de convulsões. As crises são divididas em …

[引用][C] Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant

Y Kuroda, A Ikeda, T Naruto… - American journal of …, 2024 - pubmed.ncbi.nlm.nih.gov
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant …