Keyphrases
Intellectual Disability
100%
Neurodevelopmental Disorders
72%
Basal Ganglia
68%
Pallidal
68%
Epilepsy
67%
Biallelic
59%
Pathogenic Variants
53%
Angelman Syndrome
52%
Seizure
43%
Cerebellar Ataxia
41%
Primate Model
40%
Parkinson's Disease
40%
Exome Sequencing
40%
Ataxia Telangiectasia
39%
Developmental Delay
38%
Whole Exome Sequencing
38%
Microcephaly
33%
TECPR2
32%
Genetic Disease
32%
Biallelic mutations
32%
Optic Atrophy
29%
Clinical Phenotype
28%
Drug-resistant Epilepsy
28%
Parkinsonism
27%
Pathophysiology
27%
Infantile Epileptic Encephalopathy
27%
Neurodegenerative Diseases
27%
Gaboxadol
27%
Firing Rate
27%
Mitochondrial Fatty Acid Synthesis (mtFAS)
26%
Distal Hereditary Motor Neuropathy (dHMN)
26%
Deleterious Variants
26%
Encephalopathy
26%
Monkey
26%
Dopamine Replacement Therapy
26%
Phase II Study
26%
Areflexia
26%
Sudden Sensorineural Hearing Loss (SSNHL)
25%
Spasticity
25%
Primates
24%
Globus Pallidus
24%
Phenotypic Spectrum
23%
Epileptic Encephalopathy
23%
Synchronous Oscillation
23%
Oscillation
22%
Neurodevelopmental Impairment
21%
Fibroblasts
21%
Movement Disorders
21%
Promoter mutation
21%
Clinical Global Impression
20%
Neuroscience
Basal Ganglia
83%
Intellectual and Developmental Disabilities
76%
Parkinson's Disease
56%
Ataxia
52%
Globus pallidus
46%
Exome Sequencing
45%
Firing Rate
37%
Neurodegenerative Disorder
34%
Parkinsonism
34%
Brain Disease
32%
Microcephaly
30%
Tremor
30%
Sensorineural Hearing Loss
28%
Intractable Epilepsy
26%
Hypotonia
26%
Autonomic Neuropathy
26%
Mitochondrial Permeability Transition Pore
25%
Magnetic Resonance Imaging of Brain
24%
Neurodevelopmental Disorder
23%
Stereotypic Movement Disorder
23%
Corpus Callosum
22%
C-Terminus
22%
Psychopathology
20%
Brain Imaging
20%
Neuropathy
17%
Pediatric Epilepsy
17%
Missense Mutation
17%
Tetrahydropyridine
16%
Serine
15%
Fibroblast
15%
Magnetic Resonance Imaging
14%
Junctional Adhesion Molecule B
13%
Brain Areas
13%
Felbamate
13%
Angelman Syndrome
13%
Calcineurin
13%
Information Processing
13%
Paraplegia
13%
Dysautonomia
13%
Substantia nigra
13%
Nerve Cell Differentiation
13%
Cardiac Dysrhythmia
13%
Dysplasia
13%
Synaptobrevin 2
13%
Refractory Period
13%
GAD1
13%
Perampanel
13%
Thalamus
13%
Nerve Cell Membrane Potential
13%
Riboflavin
13%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
86%
Intellectual Disability
81%
Fibroblast
50%
Magnetic Resonance Imaging
43%
Genetics
42%
Genetic Disorder
34%
Missense
28%
C-Terminus
27%
Fatty Acid Synthesis
26%
Angelman Syndrome
26%
G Protein
26%
Promoter Region
21%
Isoform
21%
Missense Mutation
20%
RNA
18%
Gene Expression
17%
Synapse
17%
Synaptic Transmission
17%
Phlebothrombosis
17%
Amino Acids
17%
Dysplasia
16%
Mitochondrion
15%
Exome
15%
Exon
15%
Protocadherin
13%
ATP1A3
13%
GTPase-activating Protein
13%
VAMP2
13%
JAM2
13%
Cardiac Dysrhythmia
13%
Nerve Cell Differentiation
13%
Body Height
13%
Beta-Propeller
13%
Kinesin
13%
Mitochondrial Membrane Potential
13%
Mitochondrial Dynamics
13%
Dynamics
13%
Membrane Fusion
13%
Phenylalanine Hydroxylase
13%
Genetic Divergence
13%
Axon
13%
WWOX
13%
Iron Metabolism
13%
GAD1
13%
Autophagosome
13%
Calcium Ion
13%
Subcellular Localization
13%
PPP3CA
13%
Mediator
13%
Retigabine
13%