Keyphrases
Autosomal Recessive
100%
Intellectual Disability
77%
Seizure
65%
Microcephaly
47%
Cytokine Production
45%
Mononuclear Cells
41%
Bilateral Striatal Necrosis
38%
Israel
36%
Infantile Epileptic Encephalopathy
34%
Peripheral Blood Mononuclear Cells
34%
Novel mutation
33%
Interleukin-2
31%
Interleukin-1β
31%
Clinical Features
29%
Missense mutation
28%
Genotype-phenotype Correlation
25%
Epilepsy
25%
Intravenous Immunoglobulin (IVIg)
24%
Consanguineous Family
24%
Interleukin-6
24%
Ataxia
23%
Polymicrogyria
23%
New Syndrome
23%
Whole Exome Sequencing
22%
Homozygosity Mapping
21%
Human Colostrum
20%
Bilateral Frontoparietal Polymicrogyria
20%
Developmental Delay
20%
Phenotypic Spectrum
20%
Basal Ganglia
19%
Neonate
19%
Encephalopathy
19%
Pedigree
19%
Hypotonia
18%
Phagocytic Activity
18%
Carbamazepine
17%
Israeli Arabs
17%
Homozygous Missense mutation
17%
Dysmorphic Features
16%
Early Infantile
16%
Lumbar Puncture
15%
KCNQ2
15%
Hereditary Spastic Paraplegia
15%
Hydrocephalus
15%
Colostrum
15%
Cerebellar Atrophy
15%
Autosomal Recessive Inheritance
15%
Consanguineous Parents
14%
Rheumatic Fever
14%
Cerebrospinal Fluid
14%
Medicine and Dentistry
Diseases
86%
Autosomal Recessive Inheritance
64%
Epileptic Seizure
50%
Brain Disease
40%
Microcephaly
31%
Ataxia
30%
Pediatrics
28%
Neuropathy
24%
Lafora Disease
22%
Magnetic Resonance Imaging
22%
Missense Mutation
21%
Necrosis
20%
Microgyria
20%
DRESS Syndrome
17%
Single-Photon Emission Computed Tomography
17%
Hypotonia
17%
Neonate
16%
Myoclonus Seizure
15%
Basal Ganglia
14%
Developmental Delay
14%
Peripheral Blood Mononuclear Cell
14%
Mononuclear Cell
13%
Benign Neonatal Sleep Myoclonus
13%
Cytokine Production
13%
Mediator Complex
13%
DeJerine-Sottas Disease
13%
Giant Axonal Neuropathy
13%
Immunoglobulin
12%
Clinical Feature
12%
Spasticity
11%
Carbamazepine
11%
Corpus Callosum
11%
Homozygosity
11%
Intellectual and Developmental Disabilities
11%
Partial Seizure
11%
Congenital Malformation
11%
Infancy
10%
Autosomal Dominant Inheritance
10%
Aciclovir
10%
Cerebellum Atrophy
10%
Peripheral Nervous System
10%
Gene Linkage
10%
Interferon
9%
Neurologic Disease
9%
Anticonvulsant
9%
Lumbar Puncture
9%
Genetic Disorder
9%
Corpus Callosum Agenesis
9%
Stevens-Johnson Syndrome
9%
Neurological Complication
9%
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
99%
Intellectual Disability
66%
Genetics
55%
Missense Mutation
54%
Exome Sequencing
34%
Gene Linkage
33%
Haplotype
32%
Genotype Phenotype Correlation
29%
Magnetic Resonance Imaging
28%
Homozygosity
22%
Exon
21%
Pedigree
21%
Fibroblast
19%
Autosomal Recessive Disorder
16%
Enzyme
15%
Dideoxynucleotide Sequencing
15%
Candidate Gene
15%
Infancy
15%
Isoform
14%
Rigidity
13%
Missense
13%
Autosomal Dominant Inheritance
11%
Benign Familial Neonatal Seizures
11%
CD59
11%
Exome
10%
Interleukin-1
10%
Whole Genome Sequencing
10%
Tumor Necrosis Factor
10%
Proline
10%
Interleukin 6
10%
Glycosylphosphatidylinositol
9%
Molecular Genetics
9%
Synapse
9%
Point Mutation
9%
Orthology
9%
Cytokine Production
9%
Blood Level
9%
Genetic Heterogeneity
9%
Gene Mutation
8%
Interferon-Stimulated Gene
8%
Next Generation Sequencing
8%
Arginine
8%
Gene Expression
8%
Immune Response
8%
RNA
7%
Interferon Type I
7%
Shotgun Sequencing
7%
Protein Sequencing
7%
Ligand Binding Domain
6%
Haploinsufficiency
6%
