Keyphrases
Intellectual Disability
100%
Neurodevelopmental Disorders
71%
Epilepsy
70%
Biallelic
64%
Basal Ganglia
60%
Pallidal
60%
Angelman Syndrome
57%
Seizure
53%
Pathogenic Variants
47%
Cerebellar Ataxia
36%
Primate Model
36%
Parkinson's Disease
36%
Infantile Epileptic Encephalopathy
36%
Exome Sequencing
35%
Whole Exome Sequencing
35%
Ataxia Telangiectasia
34%
Developmental Delay
34%
Global Developmental Delay
33%
Microcephaly
33%
Epileptic Encephalopathy
32%
TECPR2
28%
Genetic Disease
28%
Biallelic mutations
28%
Optic Atrophy
26%
Clinical Phenotype
25%
Movement Disorders
25%
Drug-resistant Epilepsy
24%
Rett Syndrome
24%
Parkinsonism
24%
Pathophysiology
24%
Neurodegenerative Diseases
24%
Gaboxadol
24%
Firing Rate
24%
Israel
23%
Mitochondrial Fatty Acid Synthesis (mtFAS)
23%
Distal Hereditary Motor Neuropathy (dHMN)
23%
Deleterious Variants
23%
Encephalopathy
23%
Monkey
23%
Dopamine Replacement Therapy
23%
Phase II Study
23%
Areflexia
23%
Autism Spectrum Disorder
23%
Sudden Sensorineural Hearing Loss (SSNHL)
22%
Spasticity
22%
Primates
21%
Globus Pallidus
21%
Phenotypic Spectrum
20%
Synchronous Oscillation
20%
Oscillation
19%
Neuroscience
Basal Ganglia
74%
Intellectual and Developmental Disabilities
67%
Parkinson's Disease
49%
Ataxia
47%
Exome Sequencing
44%
Globus pallidus
41%
Firing Rate
32%
Neurodevelopmental Disorder
32%
Neurodegenerative Disorder
30%
Parkinsonism
30%
Microcephaly
30%
Brain Disease
28%
Tremor
27%
Sensorineural Hearing Loss
24%
Intractable Epilepsy
23%
Hypotonia
23%
Autonomic Neuropathy
23%
Angelman Syndrome
23%
Mitochondrial Permeability Transition Pore
22%
Magnetic Resonance Imaging of Brain
21%
Pediatric Epilepsy
21%
Stereotypic Movement Disorder
20%
Corpus Callosum
20%
C-Terminus
19%
Psychopathology
18%
Brain Imaging
18%
Neuropathy
15%
Missense Mutation
15%
Fibroblast
14%
Magnetic Resonance Imaging
14%
Tetrahydropyridine
14%
Serine
13%
G Protein
13%
Nerve Cell Differentiation
13%
Junctional Adhesion Molecule B
11%
Brain Areas
11%
Felbamate
11%
Calcineurin
11%
Information Processing
11%
Paraplegia
11%
Dysautonomia
11%
Substantia nigra
11%
Cardiac Dysrhythmia
11%
Dysplasia
11%
Synaptobrevin 2
11%
Refractory Period
11%
GAD1
11%
Perampanel
11%
Thalamus
11%
Nerve Cell Membrane Potential
11%
Biochemistry, Genetics and Molecular Biology
Intellectual Disability
83%
Exome Sequencing
78%
Fibroblast
46%
Genetics
42%
Magnetic Resonance Imaging
38%
Angelman Syndrome
34%
Genetic Disorder
30%
Missense
25%
C-Terminus
24%
Fatty Acid Synthesis
23%
G Protein
23%
Promoter Region
19%
Isoform
19%
Synapse
18%
Missense Mutation
17%
RNA
16%
Gene Expression
15%
Synaptic Transmission
15%
Phlebothrombosis
15%
Rett Syndrome
15%
Amino Acids
15%
Dysplasia
14%
Mitochondrion
13%
Exome
13%
Exon
13%
Bioinformatics
13%
Induced Pluripotent Stem Cell
13%
Axon
13%
Protocadherin
11%
ATP1A3
11%
GTPase-activating Protein
11%
VAMP2
11%
JAM2
11%
Cardiac Dysrhythmia
11%
Nerve Cell Differentiation
11%
Body Height
11%
Beta-Propeller
11%
Kinesin
11%
Mitochondrial Membrane Potential
11%
Mitochondrial Dynamics
11%
Dynamics
11%
Membrane Fusion
11%
Phenylalanine Hydroxylase
11%
Genetic Divergence
11%
WWOX
11%
Iron Metabolism
11%
GAD1
11%
Autophagosome
11%
Calcium Ion
11%
Subcellular Localization
11%
