Lhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination.

Assi, Jeries; Chyta, Marianna; Mavridis, Ioannis

Assi, Jeries; Chyta, Marianna; Mavridis, Ioannis.

Affiliation

Assi J; School of Medicine, Faculty of Health Sciences, Democritus University of Thrace, Alexandroupolis, Greece.
Chyta M; School of Medicine, Faculty of Health Sciences, Democritus University of Thrace, Alexandroupolis, Greece.
Mavridis I; School of Medicine, Faculty of Health Sciences, Democritus University of Thrace, Alexandroupolis, Greece. inmavridis@gmail.com.

Childs Nerv Syst ; 39(11): 3295-3299, 2023 11.

Article in En | MEDLINE | ID: mdl-37368068

Subject(s)

Cerebellar Neoplasms; Epilepsy; Hamartoma Syndrome, Multiple; Male; Humans; Child; Hamartoma Syndrome, Multiple/complications; Hamartoma Syndrome, Multiple/genetics; Hamartoma Syndrome, Multiple/pathology; Cerebellar Neoplasms/surgery; Mutation/genetics; Epilepsy/genetics; Epilepsy/complications; Sodium; Magnetic Resonance Imaging; Potassium Channels, Sodium-Activated/genetics

Key words

Cerebellar dysplastic gangliocytoma; Developmental and epileptic encephalopathy; Epilepsy; Lhermitte-Duclos disease; Sodium-activated potassium channel subfamily T member 2

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hamartoma Syndrome, Multiple / Cerebellar Neoplasms / Epilepsy Limits: Child / Humans / Male Language: En Journal: Childs Nerv Syst Journal subject: NEUROLOGIA / PEDIATRIA Year: 2023 Type: Article Affiliation country: Greece

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