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Keyphrases
Autosomal Recessive
100%
Intellectual Disability
75%
Seizure
66%
Cytokine Production
46%
Microcephaly
45%
Mononuclear Cells
42%
Bilateral Striatal Necrosis
37%
Israel
37%
Developmental and Epileptic Encephalopathy
35%
Novel mutation
33%
Interleukin-2
32%
Interleukin-1β
31%
Peripheral Blood Mononuclear Cells
30%
Clinical Features
29%
Intravenous Immunoglobulin (IVIg)
28%
Missense mutation
28%
Epilepsy
26%
Genotype-phenotype Correlation
25%
Interleukin-6
24%
Whole Exome Sequencing
23%
Polymicrogyria
23%
New Syndrome
23%
Consanguineous Family
23%
Homozygosity Mapping
22%
Developmental Delay
21%
Human Colostrum
21%
Bilateral Frontoparietal Polymicrogyria
21%
Hypotonia
20%
Basal Ganglia
20%
Neonate
19%
Encephalopathy
19%
Pedigree
19%
Ataxia
19%
Phenotypic Spectrum
18%
Homozygous Missense mutation
18%
Phagocytic Activity
18%
Israeli Arabs
18%
Dysmorphic Features
18%
Carbamazepine
17%
Corpus Callosum Agenesis
17%
Jews
17%
Early Onset
16%
Early Infantile
16%
Hydrocephalus
15%
Lumbar Puncture
15%
KCNQ2
15%
Hereditary Spastic Paraplegia
15%
Colostrum
15%
Consanguineous
15%
Cerebellar Atrophy
15%
Medicine and Dentistry
Diseases
66%
Brain Disease
48%
Epileptic Seizure
39%
Autosomal Recessive Inheritance
37%
Genetics
32%
Magnetic Resonance Imaging
21%
Necrosis
21%
Microgyria
21%
Hypotonia
18%
Epilepsy
18%
Infancy
18%
Single-Photon Emission Computed Tomography
17%
Adolescence
17%
Basal Ganglia
16%
Pediatrics
15%
Clinical Feature
14%
Neonate
14%
Myoclonus Seizure
14%
Benign Neonatal Sleep Myoclonus
14%
Rheumatic Fever
14%
Microcephaly
13%
Developmental Delay
13%
Steroids
12%
Partial Seizure
11%
Congenital Malformation
11%
Autosomal Dominant Inheritance
11%
Gene Linkage
10%
DRESS Syndrome
10%
Carbamazepine
10%
Aciclovir
10%
Etiology
10%
Benign Familial Neonatal Seizures
10%
Pathogen
10%
Lumbar Puncture
9%
Stevens-Johnson Syndrome
9%
Neurological Complication
9%
Exome Sequencing
9%
Thiamine
8%
Diarrhea
8%
Ultrastructure
8%
Encephalitis
8%
Neurologic Finding
8%
Arm
8%
Neurologic Disease
8%
Anticonvulsant
8%
Corticosteroid
8%
Thiamine Deficiency
8%
Missense Mutation
8%
Chromosome
7%
Thalamus
7%
