In:
Journal of Pediatric Neurology, Georg Thieme Verlag KG, Vol. 21, No. 01 ( 2023-02), p. 044-048
Abstract:
Epilepsy 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.
Type of Medium:
Online Resource
ISSN:
1304-2580
,
1875-9041
DOI:
10.1055/s-0042-1759540
Language:
English
Publisher:
Georg Thieme Verlag KG
Publication Date:
2023
detail.hit.zdb_id:
2130673-4
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