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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Philip K Ahring
*
, Vivian W Y Liao
,
Elena Gardella
,
Katrine M Johannesen
, Ilona Krey
, Kaja K Selmer
, Barbro F Stadheim
, Hannah Davis
, Charlotte Peinhardt
, Mahmoud Koko
, Rohini K Coorg
, Steffen Syrbe
, Astrid Bertsche
, Teresa Santiago-Sim
, Tue Diemer
,
Christina D Fenger
, Konrad Platzer
, Evan E Eichler
, Holger Lerche
, Johannes R Lemke
Mary Chebib,
Rikke S Møller
*
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*
Corresponding author for this work
Filadelfia
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Explore the research areas of 'Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy'.
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Keyphrases
Epilepsy
100%
GABRD
100%
Gain-of-function Variants
100%
Novel Pathways
100%
Gain-of-function
80%
GABAA Receptor (GABAAR)
60%
Missense
60%
Function Effect
60%
Loss Function
40%
Gain-of-function mutation
40%
Generalized Epilepsy
40%
SLC6A1
40%
Electroclinical Features
40%
Novel Mechanism
20%
Seizure
20%
Clinical Phenotype
20%
Atypical Absence
20%
Occipital Region
20%
Sporadic Patient
20%
Focal Slowing
20%
Epileptiform Discharges
20%
Functional Consequences
20%
Potential Treatments
20%
Myoclonic
20%
Bilateral Tonic-clonic Seizure
20%
Somatic Mosaicism
20%
Extrasynaptic
20%
Autism Diagnosis
20%
Neurotransmission
20%
Electrophysiological Measurements
20%
Normal Intelligence
20%
Phenotypic Spectrum
20%
Antiseizure Medication
20%
Variant Carriers
20%
Behavioral Problems
20%
Neuroscience
GABRD
100%
Psychopathology
100%
Epilepsy
100%
GABAA Receptor
71%
Generalised Epilepsy
28%
Gamma-Aminobutyric Acid
28%
Receptor
28%
Electroencephalography
14%
Pervasive Developmental Disorder
14%
Somatics
14%
Tonic-Clonic Seizure
14%
Antiseizure Medication
14%
Synaptic Transmission
14%
Mosaicism
14%
Intellectual Disability
14%
Biochemistry, Genetics and Molecular Biology
GABAA Receptor
100%
GABRD
100%
Missense
60%
Gamma-Aminobutyric Acid
40%
Intellectual Disability
20%
Synaptic Transmission
20%
Mosaicism
20%
Electroencephalography
20%