Publications by Joanna Lepicka

Publications by authors named "Joanna Lepicka"

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Chloride deregulation and GABA depolarization in MTOR related malformations of cortical development.

Naziha Bakouh Reyes Castaño-Martín Alice Metais Emanuela Loredana Dan Estelle Balducci Joanna Lepicka

Brain

August 2024

Focal Cortical Dysplasia, Hemimegalencephaly and Cortical Tuber are pediatric epileptogenic malformations of cortical development (MCDs) frequently pharmaco-resistant and mostly surgically treated by the resection of epileptic cortex. Availability of cortical resection samples allowed significant mechanistic discoveries directly from human material. Causal brain somatic or germline mutations in the AKT/PI3K/DEPDC5/MTOR genes were identified.

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