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Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease

Monteiro, Isabel; Jesus-Ribeiro, Joana; B. Melo, Joana; Sales, Francisco; Geraldo, Argemiro

Charcot-Marie-Tooth (CMT) disease is an inherited neuropathy known for its genetic and phenotypic heterogeneity. Although unusual, the involvement of the central nervous system (CNS) has also been reported, including epilepsy. A 23-year-old man who at the age of 8 started to develop a gait disturbance. His neurological examination revealed distal weakness, muscular atrophy of the four limbs and decreased deep t...

Date: 2024   |   Origin: SINAPSE

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