Work

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

Year: 2014

Type: article

Study design: Case Report

Source: Epilepsia

DOI: 10.1111/epi.12632

Authors: Laura Canafoglia, Michela Morbin, Vidmer Scaioli, Davide Pareyson, Ludovico D'Incerti, Valeria Fugnanesi, Fabrizio Tagliavini, Samuel F. Berkovic, Silvana Franceschetti

Institutions: Fondazione IRCCS Istituto Neurologico Carlo Besta, The University of Melbourne, Austin Health

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2070161555

FWCI: 3.604

Cites: 12

Cited by: 69

Related to: 10