Keyphrases
Ataxia
23%
Autosomal Recessive
100%
Autosomal Recessive Inheritance
15%
Basal Ganglia
19%
Bilateral Frontoparietal Polymicrogyria
20%
Bilateral Striatal Necrosis
38%
Carbamazepine
17%
Cerebellar Atrophy
15%
Cerebrospinal Fluid
14%
Clinical Features
29%
Colostrum
15%
Consanguineous Family
24%
Consanguineous Parents
14%
Cytokine Production
45%
Developmental Delay
20%
Dysmorphic Features
16%
Early Infantile
16%
Encephalopathy
19%
Epilepsy
25%
Genotype-phenotype Correlation
25%
Hereditary Spastic Paraplegia
15%
Homozygosity Mapping
21%
Homozygous Missense mutation
17%
Human Colostrum
20%
Hydrocephalus
15%
Hypotonia
18%
Infantile Epileptic Encephalopathy
34%
Intellectual Disability
77%
Interleukin-1β
31%
Interleukin-2
31%
Interleukin-6
24%
Intravenous Immunoglobulin (IVIg)
24%
Israel
36%
Israeli Arabs
17%
KCNQ2
15%
Lumbar Puncture
15%
Microcephaly
47%
Missense mutation
28%
Mononuclear Cells
41%
Neonate
19%
New Syndrome
23%
Novel mutation
33%
Pedigree
19%
Peripheral Blood Mononuclear Cells
34%
Phagocytic Activity
18%
Phenotypic Spectrum
20%
Polymicrogyria
23%
Rheumatic Fever
14%
Seizure
65%
Whole Exome Sequencing
22%
Medicine and Dentistry
Aciclovir
10%
Anticonvulsant
9%
Ataxia
30%
Autosomal Dominant Inheritance
10%
Autosomal Recessive Inheritance
64%
Basal Ganglia
14%
Benign Neonatal Sleep Myoclonus
13%
Brain Disease
40%
Carbamazepine
11%
Cerebellum Atrophy
10%
Clinical Feature
12%
Congenital Malformation
11%
Corpus Callosum
11%
Corpus Callosum Agenesis
9%
Cytokine Production
13%
DeJerine-Sottas Disease
13%
Developmental Delay
14%
Diseases
84%
DRESS Syndrome
17%
Epileptic Seizure
50%
Gene Linkage
10%
Genetic Disorder
9%
Giant Axonal Neuropathy
13%
Homozygosity
11%
Hypotonia
17%
Immunoglobulin
12%
Infancy
10%
Intellectual and Developmental Disabilities
11%
Interferon
9%
Lafora Disease
22%
Lumbar Puncture
9%
Magnetic Resonance Imaging
22%
Mediator Complex
13%
Microcephaly
31%
Microgyria
20%
Missense Mutation
21%
Mononuclear Cell
13%
Myoclonus Seizure
15%
Necrosis
20%
Neonate
16%
Neurologic Disease
9%
Neurological Complication
9%
Neuropathy
24%
Partial Seizure
11%
Pediatrics
28%
Peripheral Blood Mononuclear Cell
14%
Peripheral Nervous System
10%
Single-Photon Emission Computed Tomography
17%
Spasticity
11%
Stevens-Johnson Syndrome
9%
Biochemistry, Genetics and Molecular Biology
Arginine
8%
Autosomal Dominant Inheritance
11%
Autosomal Recessive Disorder
14%
Autosomal Recessive Inheritance
99%
Benign Familial Neonatal Seizures
11%
Blood Level
9%
Candidate Gene
10%
CD59
11%
Cytokine Production
9%
Dideoxynucleotide Sequencing
15%
Enzyme
15%
Exome
10%
Exome Sequencing
34%
Exon
21%
Fibroblast
19%
Gene Expression
8%
Gene Linkage
33%
Gene Mutation
8%
Genetic Heterogeneity
9%
Genetics
48%
Genotype Phenotype Correlation
29%
Glycosylphosphatidylinositol
9%
Haploinsufficiency
6%
Haplotype
32%
Homozygosity
17%
Immune Response
8%
Infancy
15%
Intellectual Disability
66%
Interferon Type I
7%
Interferon-Stimulated Gene
8%
Interleukin 6
10%
Interleukin-1
10%
Isoform
14%
Ligand Binding Domain
6%
Magnetic Resonance Imaging
28%
Missense
13%
Missense Mutation
52%
Molecular Genetics
9%
Next Generation Sequencing
8%
Orthology
9%
Pedigree
21%
Point Mutation
9%
Proline
10%
Protein Sequencing
7%
Rigidity
13%
RNA
7%
Shotgun Sequencing
7%
Synapse
9%
Tumor Necrosis Factor
10%
Whole Genome Sequencing
10%
