Expanding the clinical spectrum associated withPACS2mutations-Reference-Cited by-同舟云学术

Expanding the clinical spectrum associated withPACS2mutations

Published:2019-02-28 Issue:4 Volume:95 Page:525-531
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Dentici Maria L.¹^ORCID,Barresi Sabina²,Niceta Marcello²^ORCID,Ciolfi Andrea²,Trivisano Marina³,Bartuli Andrea⁴,Digilio Maria C.¹^ORCID,Specchio Nicola³,Dallapiccola Bruno²,Tartaglia Marco²

Affiliation:

1. Medical Genetics, Academic Department of Pediatrics; Ospedale Pediatrico Bambino Gesù; Rome Italy

2. Genetics and Rare Diseases Research Division; Ospedale Pediatrico Bambino Gesù; Rome Italy

3. Rare and Complex Epilepsy Unit, Department of Neuroscience and Neurorehabilitation; Ospedale Pediatrico Bambino Gesù; Rome Italy

4. Rare Disease and Medical Genetics, Academic Department of Pediatrics; Ospedale Pediatrico Bambino Gesù; Rome Italy

Funder

Italian Ministry of Health

Fondazione Bambino Gesù

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13516/fullpdf

Reference12 articles.

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2. De novo mutations in moderate or severe intellectual disability;Hamdan;PLoS Genet,2014

3. Epileptic encephalopathies-clinical syndromes and pathophysiological concepts;Deimling;Curr Neurol Neurosci Rep,2017

4. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies;Hamdan;Am J Hum Genet,2017

5. ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology;Scheffer;Epilepsia,2017

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4. Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering;Contact;2024-01

5. Genome-wide kinase-MAM interactome screening reveals the role of CK2A1 in MAM Ca ²⁺ dynamics linked to DEE66;Proceedings of the National Academy of Sciences;2023-07-31