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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
Andreas Brunklaus
*
, Tobias Brünger
, Tony Feng
, Carmen Fons
, Anni Lehikoinen
, Eleni Panagiotakaki
, Mihaela-Adela Vintan
, Joseph D Symonds
, James Andrew
, Alexis Arzimanoglou
, Sarah Delima
, Julie Gallois
, Donncha Hanrahan
, Gaetan Lesca
, Stewart MacLeod
,
Dragan Marjanovic
, Amy McTague
, Noemi Nuñez-Enamorado
, Eduardo Perez-Palma
, M Scott Perry
Karen Pysden, Sophie J Russ-Hall, Ingrid E Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly Weiss, Elaine Wirrell, Sameer M Zuberi, Dennis Lal,
Rikke S Møller
*
, Massimo Mantegazza
*
, Sandrine Cestèle
*
Vis 15 andre
Vis mindre
*
Corresponding author af dette arbejde
Filadelfia
Publikation
:
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Keyphrases
Therapeutic Implications
100%
SCN1A
100%
Gain-of-function
100%
Epilepsy Phenotype
100%
Epilepsy
62%
Familial Hemiplegic Migraine
62%
Dravet Syndrome
50%
Movement Disorders
50%
Infantile Epileptic Encephalopathy
25%
Current Amplitude
25%
Arthrogryposis
25%
Action Current
25%
Nav1.1
25%
Confidence Interval
12%
Clinical Features
12%
Age of Onset
12%
Lamotrigine
12%
Odds Ratio
12%
Clinical Presentation
12%
Seizure
12%
Disease Mechanisms
12%
Underlying Disease
12%
Gain-of-function mutation
12%
Early-onset Epilepsy
12%
Voltage-gated Sodium Channel
12%
Functional Studies
12%
Sodium Channel
12%
Epileptic Encephalopathy
12%
Developmental Encephalopathy
12%
Severely Affected
12%
Neonatal Onset
12%
Electrophysiological Recordings
12%
Severe Intellectual Disability
12%
Apnea
12%
Phenytoin
12%
Carbamazepine
12%
Collaborative Networks
12%
Functional Assessment
12%
Clinical Survey
12%
Symptom Exacerbation
12%
Tonic Seizures
12%
Mild Phenotype
12%
Variant Cluster
12%
Persistent Current
12%
Neonatal Presentation
12%
Genetic Epilepsy with Febrile Seizures Plus (GEFS+)
12%
Congenital Arthrogryposis
12%
Whole-cell Voltage Clamp
12%
Variant Syndrome
12%
Channel Inactivation
12%
Oxcarbazepine
12%
Neuronal Hyperexcitability
12%
Lacosamide
12%
Medicine and Dentistry
Spectrum Disorder
100%
Familial Hemiplegic Migraine
100%
Stereotypic Movement Disorder
80%
Severe Myoclonic Epilepsy of Infancy
80%
Brain Disease
60%
Sodium Channel Blocker
40%
Diseases
40%
Onset Age
20%
Lamotrigine
20%
Clinical Genetics
20%
Clinical Feature
20%
Epileptic Seizure
20%
Apnea
20%
Sodium Channel
20%
Whole Cell
20%
Phenytoin
20%
Oxcarbazepine
20%
Carbamazepine
20%
Febrile Seizure
20%
Tonic Seizure
20%
Sodium Channel Nav1.1
20%
Lacosamide
20%
Odds Ratio
20%
Voltage Clamp
20%
Pharmacology, Toxicology and Pharmaceutical Science
Diseases
100%
Severe Myoclonic Epilepsy in Infancy
80%
Motor Dysfunction
80%
Brain Disease
60%
Arthrogryposis
60%
Sodium Channel Blocking Agent
40%
Lamictal
20%
Clinical Feature
20%
Apnea
20%
Sodium Channel
20%
Lacosamide
20%
Carbamazepine
20%
Phenytoin
20%
Intellectual Impairment
20%
Onset Age
20%
Oxcarbazepine
20%
Tonic Seizure
20%
Febrile Convulsion
20%
Sodium Channel Nav1.1
20%
Neuroscience
Spectrum Disorder
100%
Familial Hemiplegic Migraine
100%
Dravet Syndrome
80%
Stereotypic Movement Disorder
80%
Brain Disease
60%
Sodium Channel Blocker
40%
Lamotrigine
20%
Sodium Channel
20%
Febrile Seizure
20%
Phenytoin
20%
Carbamazepine
20%
Sodium Channel Nav1.1
20%
Oxcarbazepine
20%
Voltage Clamp
20%