Publications and ressources

Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges.

Annarita Miccio , Panagiotis Antoniou, Sorana CIURA, Edor Kabashi

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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Edor Kabashi

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Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial.

Rima NABBOUT

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Trpv4 Mediates Hypotonic Inhibition of Central Osmosensory Neurons via Taurine Gliotransmission.

Sorana CIURA

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Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Sorana CIURA

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Gamma-aminobutyric acidergic transmission underlies interictal epileptogenicity in pediatric focal cortical dysplasia.

Rima NABBOUT

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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Rima NABBOUT

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Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

Rima NABBOUT

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The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

Edor Kabashi

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