Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey-Reference-Cited by-同舟云学术

Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey

Published:2023-05 Issue: Volume:142 Page:109153
ISSN:1525-5050
Container-title:Epilepsy & Behavior
language:en
Short-container-title:Epilepsy & Behavior

Author:

Cossu A.^ORCID,Lo Barco T.,Proietti J.^ORCID,Dalla Bernardina B.,Cantalupo G.^ORCID,Ghobert L.^ORCID,Brambilla I.^ORCID,Giarola E.,Costa A.,De Benito T.,Bethge S.,Cardot S.,Montwill Iga,Remonato E.,Gramaglia S.,Darra F.^ORCID

Publisher

Elsevier BV

Subject

Behavioral Neuroscience,Neurology (clinical),Neurology

Reference13 articles.

1. Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction;Nappi;Pflugers Arch,2020

2. Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients;Weckhuysen;Neurology,2013

3. KCNQ2 -DEE: developmental or epileptic encephalopathy?;Berg;Ann Clin Transl Neurol,2021

4. Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies;Cohen;Dev Med Child Neurol,2022

5. Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder;Leonard;Epilepsy Res,2021

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1. Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations;Epilepsia Open;2024-08-14

2. Linking Respiratory Challenges in KCNQ2 Encephalopathy to “Phox2b” Neurons in the Retrotrapezoid Nucleus;Epilepsy Currents;2024-05-16

3. Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders;Brain;2024-04-23

4. Clinical features of developmental and epileptic encephalopathy caused by <i>KCNQ2</i> gene mutation;Epilepsy and paroxysmal conditions;2023-12-22

5. KCNQ2 channels regulate the population activity of neonatal GABAergic neurons ex vivo;Frontiers in Neurology;2023-06-20