Epilepsy in Joubert Syndrome: A Still Few Explored Matter-Reference-Cited by-同舟云学术

Epilepsy in Joubert Syndrome: A Still Few Explored Matter

Published:2023-01-05 Issue:01 Volume:21 Page:044-048
ISSN:1304-2580
Container-title:Journal of Pediatric Neurology
language:en
Short-container-title:Journal of Pediatric Neurology

Author:

Prato Adriana¹,Scuderi Anna¹,Amore Greta¹,Spoto Giulia¹,Salpietro Vincenzo²,Ceravolo Antonio³,Farello Giovanni⁴,Iapadre Giulia²,Pironti Erica⁵,Dicanio Daniela¹,Rosa Gabriella Di¹

Affiliation:

1. Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

2. Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

3. Department of Pediatrics, Cinquefrondi, Reggio Calabria, Italy

4. Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito, L'Aquila, Italy

5. Department of Woman-Child, Unit of Child Neurology and Psychiatry, Ospedali Riuniti, University of Foggia, Foggia, Italy

Abstract

AbstractEpilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being reported only in 3% of cases. Few patients have been described, moreover, with poor evidences of specific seizures' semiology or standard of practice for pharmacological treatment. Epilepsy is likely to be related to brain malformations in ciliopathies. Beyond the typical hindbrain malformation, the molar tooth sign, other cerebral anomalies variably reported in JSRD, such as generalized polymicrogyria, hamartomas, periventricular nodular heterotopia, and hippocampal defects, have been described. Herein, we aimed to revise the main clinical and etiopathogenetic characteristics of epilepsy associated with JSRD.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1759540.pdf

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