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DALLE , Carine

Last name: DALLE

First name: Carine

2018 (v1)

Journal article

Metadata-only

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Kokunai, Yosuke Dalle, Carine Vicart, Savine

Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The dominantly-inherited form of hyperPP is caused by overactivity of Nav1.4 — the skeletal muscle voltage-gated sodium channel. Familial hypoPP results from a leaking gating pore...

Uploaded on: December 4, 2022
2014 (v1)

Publication

Metadata-only

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava, Caroline Dalle, Carine Rastetter, Agnès

Hyperpolarization-activated, cyclic nucleotide gated (HCN) channels contribute to cationic current in neurons and regulate the excitability of neuronal networks. Studies in rat models have shown that the Hcn1 gene has a key role in epilepsy, but clinical evidence implicating HCN1 mutations in human epilepsy is lacking. We carried out exome...

Uploaded on: April 14, 2023