KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
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Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal NeuronsPrecision medicine in genetic epilepsies: break of dawn?Recent advances in epilepsy.Pharmacogenomics in epilepsy.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.Precision Medicine: NMDA Receptor-Targeted Therapy for GRIN2D Encephalopathy.Helix: October 2016 issueSTXBP1 as a therapeutic target for epileptic encephalopathy.Early-Life Epilepsies and the Emerging Role of Genetic Testing.Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.Flupirtine and diazepam combination terminates established status epilepticus: results in three rodent models.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Neural stem cells and epilepsy: functional roles and disease-in-a-dish models.Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions.Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.
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P2860
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 22 August 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
KCNQ2 encephalopathy: Features ...... bine treatment of 11 patients.
@en
KCNQ2 encephalopathy: Features ...... bine treatment of 11 patients.
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type
label
KCNQ2 encephalopathy: Features ...... bine treatment of 11 patients.
@en
KCNQ2 encephalopathy: Features ...... bine treatment of 11 patients.
@nl
prefLabel
KCNQ2 encephalopathy: Features ...... bine treatment of 11 patients.
@en
KCNQ2 encephalopathy: Features ...... bine treatment of 11 patients.
@nl
P2093
P2860
P50
P1433
P1476
KCNQ2 encephalopathy: Features ...... bine treatment of 11 patients.
@en
P2093
Baouyen Tran
Brenda Porter
Bruria Ben-Zeev
Charu Venkatesan
Edward C Cooper
Emily L McGinnis
Eric Marsh
Keri Ramsey
Kristen L Park
Lionel Carmant
P2860
P356
10.1212/NXG.0000000000000096
P577
2016-08-22T00:00:00Z