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