S

SCHEFFER I

Last name: SCHEFFER I

2013 (v1)

Publication

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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

Weckhuysen S Ivanovic V Hendrickx R

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Uploaded on: October 11, 2023
2015 (v1)

Publication

Metadata-only

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

Panagiotakaki E De Grandis E Stagnaro M

Background: Mutations in the gene ATP1A3 have recently been identified to be prevalent in patients with alternating hemiplegia of childhood (AHC2). Based on a large series of patients with AHC, we set out to identify the spectrum of different mutations within the ATP1A3 gene and further establish any correlation with phenotype. Methods:...

Uploaded on: April 14, 2023