Keyphrases
Angelman Syndrome
46%
Areflexia
23%
Ataxia Telangiectasia
34%
Autism Spectrum Disorder
23%
Basal Ganglia
60%
Biallelic
53%
Biallelic mutations
28%
Cerebellar Ataxia
36%
Clinical Phenotype
25%
Deleterious Variants
23%
Developmental Delay
34%
Distal Hereditary Motor Neuropathy (dHMN)
23%
Dopamine Replacement Therapy
23%
Drug-resistant Epilepsy
24%
Encephalopathy
23%
Epilepsy
59%
Epileptic Encephalopathy
20%
Exome Sequencing
35%
Firing Rate
24%
Gaboxadol
24%
Genetic Disease
28%
Global Developmental Delay
29%
Globus Pallidus
21%
Infantile Epileptic Encephalopathy
24%
Intellectual Disability
100%
Israel
23%
Microcephaly
29%
Mitochondrial Fatty Acid Synthesis (mtFAS)
23%
Monkey
23%
Movement Disorders
25%
Neurodegenerative Diseases
24%
Neurodevelopmental Disorders
71%
Optic Atrophy
26%
Oscillation
19%
Pallidal
60%
Parkinson's Disease
36%
Parkinsonism
24%
Pathogenic Variants
46%
Pathophysiology
24%
Phase II Study
23%
Phenotypic Spectrum
20%
Primate Model
36%
Primates
21%
Rett Syndrome
24%
Seizure
43%
Spasticity
22%
Sudden Sensorineural Hearing Loss (SSNHL)
22%
Synchronous Oscillation
20%
TECPR2
28%
Whole Exome Sequencing
33%
Neuroscience
Angelman Syndrome
11%
Ataxia
46%
Autonomic Neuropathy
23%
Basal Ganglia
74%
Brain Areas
11%
Brain Disease
28%
Brain Imaging
18%
C-Terminus
19%
Calcineurin
11%
Cardiac Dysrhythmia
11%
Corpus Callosum
20%
Dysautonomia
11%
Dysplasia
11%
Exome Sequencing
41%
Felbamate
11%
Fibroblast
13%
Firing Rate
32%
G Protein
13%
GAD1
11%
Globus pallidus
41%
Hypotonia
23%
Information Processing
11%
Intellectual and Developmental Disabilities
67%
Intractable Epilepsy
23%
Junctional Adhesion Molecule B
11%
Magnetic Resonance Imaging
13%
Magnetic Resonance Imaging of Brain
21%
Microcephaly
27%
Missense Mutation
15%
Mitochondrial Permeability Transition Pore
22%
Nerve Cell Differentiation
11%
Nerve Cell Membrane Potential
11%
Neurodegenerative Disorder
30%
Neurodevelopmental Disorder
20%
Neuropathy
15%
Paraplegia
11%
Parkinson's Disease
49%
Parkinsonism
30%
Pediatric Epilepsy
15%
Perampanel
11%
Psychopathology
18%
Refractory Period
11%
Sensorineural Hearing Loss
24%
Serine
13%
Stereotypic Movement Disorder
20%
Substantia nigra
11%
Synaptobrevin 2
11%
Tetrahydropyridine
14%
Thalamus
11%
Tremor
27%
Biochemistry, Genetics and Molecular Biology
Amino Acids
15%
Angelman Syndrome
23%
ATP1A3
11%
Autophagosome
11%
Axon
11%
Beta-Propeller
11%
Bioinformatics
13%
Body Height
11%
C-Terminus
24%
Calcium Ion
11%
Cardiac Dysrhythmia
11%
Dynamics
11%
Dysplasia
14%
Exome
13%
Exome Sequencing
76%
Exon
13%
Fatty Acid Synthesis
23%
Fibroblast
44%
G Protein
23%
GAD1
11%
Gene Expression
15%
Genetic Disorder
30%
Genetic Divergence
11%
Genetics
42%
GTPase-activating Protein
11%
Intellectual Disability
83%
Iron Metabolism
11%
Isoform
19%
JAM2
11%
Kinesin
11%
Magnetic Resonance Imaging
38%
Membrane Fusion
11%
Missense
25%
Missense Mutation
17%
Mitochondrial Dynamics
11%
Mitochondrial Membrane Potential
11%
Mitochondrion
13%
Nerve Cell Differentiation
11%
Phenylalanine Hydroxylase
11%
Phlebothrombosis
15%
PPP3CA
11%
Promoter Region
19%
Protocadherin
11%
Rett Syndrome
15%
RNA
16%
Subcellular Localization
11%
Synapse
15%
Synaptic Transmission
15%
VAMP2
11%
WWOX
11%
