Associated Papers
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19.
Parmeggiani G et al.
Molecular Syndromology, 2024
A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern.
Niazi R et al.
Human Mutation, 2019
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Staněk D et al.
Orphanet Journal of Rare Diseases, 2018
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Ortega-Moreno L et al.
Plos One, 2017
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