Paola Costa
Trieste, Italy
Last Updated: 09/26/2026
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Found 22 publications
Electro-clinical changes during CASK-related encephalopathy evolution.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: May 01, 2025
Optimizing pediatric status epilepticus management: The role of early midazolam infusion and adherence to clinical practice guidelines.
Journal: Epilepsia
Published: January 07, 2025
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
Journal: The Journal of clinical investigation
Published: August 20, 2024
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: January 16, 2023
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.
Journal: Genes
Published: December 20, 2022
KETASER01 protocol: What went right and what went wrong.
Journal: Epilepsia open
Published: May 16, 2022
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.
Journal: Genes
Published: February 16, 2022
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Journal: American journal of medical genetics. Part A
Published: January 12, 2022
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: October 16, 2020
Last Updated: 09/26/2026