A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy-Reference-Cited by-同舟云学术

A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

Published:2019-08-11 Issue:3 Volume:4 Page:464-475
ISSN:2470-9239
Container-title:Epilepsia Open
language:en
Short-container-title:Epilepsia Open

Author:

Lauritano Anna¹,Moutton Sebastien²³^ORCID,Longobardi Elena¹,Tran Mau‐Them Frédéric³⁴,Laudati Giusy¹,Nappi Piera¹,Soldovieri Maria Virginia⁵,Ambrosino Paolo⁶,Cataldi Mauro¹,Jouan Thibaud³⁴,Lehalle Daphné²³,Maurey Hélène⁷,Philippe Christophe³⁴,Miceli Francesco¹,Vitobello Antonio³⁴,Taglialatela Maurizio¹^ORCID

Affiliation:

1. Division of Pharmacology, Department of Neuroscience University of Naples “Federico II” Naples Italy

2. Reference Center for Developmental Anomalies, Department of Medical Genetics Dijon University Hospital Dijon France

3. INSERM U1231, LNC UMR1231 GAD Burgundy University Dijon France

4. Laboratoire de Génétique, Innovation en Diagnostic Génomique des Maladies Rares UF6254, Plateau Technique de Biologie CHU Dijon Dijon France

5. Department of Medicine and Health Science “V. Tiberio” University of Molise Campobasso Italy

6. Division of Pharmacology, Department of Science and Technology University of Sannio Benevento Italy

7. Service de Neurologie Pédiatrique APHP, Hôpital Universitaire Bicêtre Le Kremlin‐Bicêtre France

Funder

Fondazione Telethon

Ministero della Salute

Università degli Studi di Napoli Federico II

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epi4.12353

Reference57 articles.

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