Keyphrases
Intellectual Disability
95%
Basal Ganglia
75%
Pallidal
75%
Epilepsy
73%
Neurodevelopmental Disorders
64%
Angelman Syndrome
57%
Pathogenic Variants
55%
Biallelic
51%
Seizure
47%
Cerebellar Ataxia
45%
Primate Model
44%
Parkinson's Disease
44%
Exome Sequencing
44%
Ataxia Telangiectasia
43%
Whole Exome Sequencing
42%
Developmental Delay
39%
Microcephaly
36%
TECPR2
35%
Genetic Disease
35%
Biallelic mutations
35%
Optic Atrophy
32%
Clinical Phenotype
31%
Drug-resistant Epilepsy
30%
Parkinsonism
30%
Pathophysiology
30%
Neurodegenerative Diseases
30%
Gaboxadol
30%
Firing Rate
29%
Mitochondrial Fatty Acid Synthesis (mtFAS)
28%
Distal Hereditary Motor Neuropathy (dHMN)
28%
Deleterious Variants
28%
Encephalopathy
28%
Monkey
28%
Dopamine Replacement Therapy
28%
Phase II Study
28%
Areflexia
28%
Sudden Sensorineural Hearing Loss (SSNHL)
28%
Spasticity
27%
Primates
27%
Globus Pallidus
26%
Infantile Epileptic Encephalopathy
25%
Phenotypic Spectrum
25%
Synchronous Oscillation
25%
Oscillation
24%
Neurodevelopmental Impairment
23%
Fibroblasts
23%
Epileptic Encephalopathy
23%
Clinical Global Impression
22%
Early Onset
22%
X-linked
22%
Neuroscience
Basal Ganglia
92%
Ataxia
64%
Parkinson's Disease
61%
Exome Sequencing
52%
Globus pallidus
51%
Neurodegenerative Disorder
45%
Firing Rate
40%
Parkinsonism
37%
Hypotonia
35%
Magnetic Resonance Imaging of Brain
34%
Microcephaly
33%
Tremor
33%
Corpus Callosum
32%
C-Terminus
31%
Sensorineural Hearing Loss
30%
Autonomic Neuropathy
28%
Encephalopathy
28%
Mitochondrial Permeability Transition Pore
27%
Stereotypic Movement Disorder
23%
Brain Imaging
22%
Pediatric Epilepsy
19%
Neurodevelopmental Disorder
18%
Missense Mutation
18%
Peripheral Neuropathy
18%
Tetrahydropyridine
17%
Serine
16%
Fibroblast
16%
Magnetic Resonance Imaging
16%
G Protein
16%
Hyporeflexia
16%
Intractable Epilepsy
14%
Gene Locus
14%
Junctional Adhesion Molecule B
14%
Cardiac Dysrhythmia
14%
Dysplasia
14%
Synaptobrevin 2
14%
Refractory Period
14%
Perampanel
14%
Nerve Cell Membrane Potential
14%
Cannabidiol
14%
Riboflavin
14%
Synaptic Membrane
14%
GRIA2
14%
Clinical Assessment
14%
Membrane Fusion
14%
Amino Terminal Sequence
14%
Felbamate
14%
Angelman Syndrome
14%
Calcineurin
14%
Information Processing
14%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Intellectual Disability
85%
Fibroblast
55%
Genetics
46%
Genetic Disorder
38%
Missense Mutation
31%
C-Terminus
30%
Angelman Syndrome
28%
Fatty Acid Synthesis
28%
Missense
26%
Mouse
23%
Isoform
23%
Population
21%
Synapse
19%
Amino Acids
19%
Dysplasia
17%
RNA
17%
Gene Expression
16%
Mitochondrion
16%
Exome
16%
Exon
16%
Magnetism
16%
Protocadherin
14%
ATP1A3
14%
GTPase-activating Protein
14%
VAMP2
14%
JAM2
14%
Cardiac Dysrhythmia
14%
Nerve Cell Differentiation
14%
Body Height
14%
Beta-Propeller
14%
GTP Binding Protein
14%
Kinesin
14%
Mitochondrial Membrane Potential
14%
Riboflavin
14%
Mitochondrial Dynamics
14%
Dynamics
14%
Membrane Fusion
14%
Pyridoxal
14%
Phenylalanine Hydroxylase
14%
Monozygotic Twins
14%
Genetic Divergence
14%
Chromosome 11
14%
Ceramide
14%
Axon
14%
Promoter Region
14%
Serine
14%
WWOX
14%
Iron Metabolism
14%
GAD1
14%