Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.

Age of Onset Animals Anticonvulsants / therapeutic use CHO Cells Carbamates / therapeutic use Cells, Cultured Child Cricetinae Cricetulus Electroencephalography Epilepsy / drug therapy Female Gabapentin / therapeutic use Humans KCNQ2 Potassium Channel / genetics Mutation Phenylenediamines / therapeutic use Precision Medicine Rats Treatment Outcome
Gabapentin KCNQ2 developmental and epileptic encephalopathy epilepsy loss-of-function precision medicine

Journal

Pharmacological research
ISSN: 1096-1186
Titre abrégé: Pharmacol Res
Pays: Netherlands
ID NLM: 8907422

Informations de publication

Date de publication:
10 2020
Historique:
received: 30 07 2020
revised: 06 09 2020
accepted: 07 09 2020
pubmed: 18 9 2020
medline: 14 8 2021
entrez: 17 9 2020
Statut: ppublish

Résumé

De novo variants in KCNQ2 encoding for Kv7.2 voltage-dependent neuronal potassium (K

Identifiants

DOI: 10.1016/j.phrs.2020.105200 PMID: 32942014
pubmed: 32942014
pii: S1043-6618(20)31508-5
doi: 10.1016/j.phrs.2020.105200
pii:
doi:

Substances chimiques

Anticonvulsants 0
Carbamates 0
KCNQ2 Potassium Channel 0
KCNQ2 protein, human 0
Phenylenediamines 0
ezogabine 12G01I6BBU
Gabapentin 6CW7F3G59X

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

105200

Informations de copyright

Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.

Auteurs

Maria Virginia Soldovieri (MV)

Dept. of Medicine and Health Science, University of Molise, Campobasso, Italy.

Elena Freri (E)

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Paolo Ambrosino (P)

Dept. of Science and Technology (DST), University of Sannio, Benevento, Italy.

Ilaria Rivolta (I)

School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Monza, Italy.

Ilaria Mosca (I)

Dept. of Medicine and Health Science, University of Molise, Campobasso, Italy.

Anna Binda (A)

School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Monza, Italy.

Carmen Murano (C)

School of Medicine and Surgery, Milan Center for Neuroscience (NeuroMI), University of Milano-Bicocca, Monza, Italy.

Francesca Ragona (F)

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Laura Canafoglia (L)

Dept. of Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Chiara Vannicola (C)

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Roberta Solazzi (R)

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Tiziana Granata (T)

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Barbara Castellotti (B)

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Giuliana Messina (G)

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Cinzia Gellera (C)

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Audrey Labalme (A)

Dept. of Medical Genetics, Hospices Civils de Lyon, Lyon, France.

Gaetan Lesca (G)

Dept. of Medical Genetics, Hospices Civils de Lyon, Lyon, France.

Jacopo C DiFrancesco (JC)

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Epilepsy Center, ASST San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy. Electronic address: jacopo.difrancesco@unimib.it.

Maurizio Taglialatela (M)

Dept. of Neuroscience, University of Naples "Federico II", Naples, Italy. Electronic address: mtaglial@unina.it.

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Classifications MeSH

questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs âges › Âge de début › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Eucaryotes › Animaux › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Actions chimiques et utilisations › Actions pharmacologiques › Utilisations thérapeutiques › Agents du système nerveux central › Anticonvulsivants › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules CHO › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Composés chimiques organiques › Acides carboxyliques › Acides acycliques › Carbamates › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Cellules › Cellules cultivées › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Arvicolinae › Cricetinae › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Arvicolinae › Cricetinae › Cricetulus › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électroencéphalographie › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Amino-butyrates › Acide gamma-amino-butyrique › Gabapentine › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux potassiques › Canaux potassiques voltage-dépendants › Canaux potassiques rectifiants retardés › Canaux potassiques KNCQ › Canal potassique KCNQ2 › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Composés chimiques organiques › Amines › Polyamines › Diamines › Phénylènediamines › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Professions de santé › Médecine › Médecine clinique › Médecine de précision › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Rats › Gabapentin treatment in a patient with KCNQ2...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Qualité des soins de santé › Mécanismes d'évaluation des soins de santé › Évaluation des résultats et des processus en soins de santé › Évaluation de résultat (soins) › Résultat thérapeutique › Gabapentin treatment in a patient with KCNQ2...