Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina.

doi:10.1016/j.seizure.2026.06.015

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina.

Seizure - 1 Sept 2026

Touzon María Sol, Reyes Valenzuela Gabriela, Loos Mariana, Gonzalez Bárbara, Gauto Amin, Obregón Gomez Rossana, Chico Andrade Zenaida E, Rugilo Carlos, Princich Juan Pablo, Aschettino Giovanna, Alonso Cristina, Juanes Matias, Caraballo Roberto H

Abstract excerpt

PURPOSE: To characterize the clinical, neurophysiological, neuroimaging, and molecular features of pediatric patients with neuronal ceroid lipofuscinoses (NCLs) from a tertiary-care center in Argentina and to expand the genotypic spectrum of NCLs in an underrepresented population. METHODS: We retrospectively analyzed 19 children with genetically confirmed NCL evaluated between 2000 and 2025. Clinical data,...

Read the complete abstract on PubMed