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KOELEMAN , Bobby

Last name: KOELEMAN

First name: Bobby

2015 (v1)

Publication

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The phenotypic spectrum of SCN8A encephalopathy

Larsen, Jan Carvill, Gemma L. Gardella, Elena

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Uploaded on: May 13, 2023
2017 (v1)

Publication

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Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

Santolini, Ines Celli, Roberta Cannella, Milena

Objectives: Thrombospondins, which are known to interact with the α2δ subunit of voltage-sensitive calcium channels to stimulate the formation of excitatory synapses, have recently been implicated in the process of epileptogenesis. No studies have been so far performed on thrombospondins in models of absence epilepsy. We examined whether...

Uploaded on: April 14, 2023
2014 (v1)

Publication

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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

Appenzeller, Silke Balling, Rudi Barisic, Nina

No description

Uploaded on: April 14, 2023