Gorlin–Goltz syndrome and epilepsy: A two-case report and review of the literature
In: Epilepsy & Behavior Reports, Jg. 14 (2020), S. 100384-100384
Online
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Zugriff:
Gorlin–Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with several neurological, cutaneous and skeletal manifestations. Epilepsy has been previously reported as a finding in Gorlin–Goltz syndrome but remains ill-described in the context of this disease. We report two new patients with Gorlin–Goltz syndrome featuring epilepsy and review the existing literature on the topic.
Highlights • Patients with Gorlin-Goltz syndrome may sometimes feature cognitive impairment and epilepsy. • With an onset in childhood or adulthood, seizures are generally focal to bilateral tonic-clonic. • Epileptiform activity may either involve the frontal, temporal or parietal lobe. • Epilepsy surgery, such as lesionectomy or lobectomy, can be a treatment option in well selected drug-resistant patients. • The Sonic Hedgehog pathway may be involved in the pathophysiology of seizures in this syndrome.
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Gorlin–Goltz syndrome and epilepsy: A two-case report and review of the literature
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Autor/in / Beteiligte Person: | Dang Khoa Nguyen ; Tomasso, Daniel ; Elie Bou Assi |
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Zeitschrift: | Epilepsy & Behavior Reports, Jg. 14 (2020), S. 100384-100384 |
Veröffentlichung: | Elsevier BV, 2020 |
Medientyp: | unknown |
ISSN: | 2589-9864 (print) |
DOI: | 10.1016/j.ebr.2020.100384 |
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