Maria S. Poyato-Perez
Santander, CB, Spain
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
Epileptic and developmental encephalopathy secondary to inversion-duplication of chromosome 15: Description of epilepsy characteristics and therapeutic outcomes.
Journal: Epilepsia
Published: September 29, 2025
A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.
Journal: Orphanet journal of rare diseases
Published: January 27, 2022
Variability of the clinical expression of KCNB1 encephalopathy
Journal: Revista de neurologia
Published: December 08, 2021
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study.
Journal: Neuropediatrics
Published: March 03, 2021
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.
Journal: BMC medical genetics
Published: July 20, 2018
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Journal: Orphanet journal of rare diseases
Published: October 16, 2013
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
Journal: Journal of child neurology
Published: July 27, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026