Keyphrases
Autosomal Recessive
100%
Intellectual Disability
77%
Seizure
65%
Microcephaly
47%
Cytokine Production
45%
Mononuclear Cells
41%
Bilateral Striatal Necrosis
38%
Israel
35%
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%
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%
Fever
14%
Medicine and Dentistry
Disease
88%
Autosomal Recessive Inheritance
64%
Epileptic Seizure
46%
Brain Disease
33%
Microcephaly
31%
Ataxia
30%
Pediatrics
28%
Symptom
27%
Lafora Disease
22%
Magnetic Resonance Imaging
22%
Missense Mutation
21%
Necrosis
20%
Microgyria
20%
Adolescent
18%
DRESS Syndrome
17%
Single-Photon Emission Computed Tomography
17%
Hypotonia
16%
Neonate
16%
Neuropathy
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%
Epilepsy
13%
DeJerine-Sottas Disease
13%
Giant Axonal Neuropathy
13%
Immunoglobulin
12%
Clinical Feature
12%
Neurologic Disease
11%
Spasticity
11%
Corpus Callosum
11%
Homozygosity
11%
Partial Seizure
11%
Congenital Malformation
11%
Infancy
10%
Carbamazepine
10%
Aciclovir
10%
Autosomal Dominant Inheritance
10%
Cerebellum Atrophy
10%
Peripheral Nervous System
10%
Gene Linkage
10%
Anticonvulsant
9%
Lumbar Puncture
9%
Genetic Disorder
9%
Corpus Callosum Agenesis
9%
Hydrocephalus
9%