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SYNGAP1-related intellectual disability is a monogenetic developmental and epileptic encephalopathy that affects the central nervous system. [1] [2] Symptoms include intellectual disability, epilepsy, autism, sensory processing deficits, hypotonia and unstable gait. [3] [4] [5]
Ohtahara syndrome (OS), also known as Early Infantile Developmental & Epileptic Encephalopathy (EIDEE) [2] is a progressive epileptic encephalopathy.The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life, [3] and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG).
Lennox-Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy that consists of a triad of developmental delay, mixed seizure types and an EEG demonstrating a pattern of "slow" (<2.5 Hz) spike-wave and generalized paroxysmal fast activity. Onset is most commonly prior to age 8 years but rare cases can onset in adolescence.
The symptoms of CDD include early infantile onset refractory epilepsy; hypotonia; developmental, intellectual, and motor disabilities, with little or no speech; and cortical visual impairment. [1] Patients usually present first with seizures within the first months of life, followed by infantile spasms which progress to epileptic seizures that ...
Early infantile epileptic encephalopathy (acquired or congenital abnormal cortical development). Early myoclonic epileptic encephalopathy (possibly due to metabolic disorders). Gluten encephalopathy: Focal abnormalities of the white matter (generally area of low perfusion) are appreciated through magnetic resonance. Migraine is the most common ...
Pathogenic variations in KCNQ2 are associated with developmental and epileptic encephalopathy (DEE). KCNQ2 is a voltage gated potassium channel within the brain, located on the long arm of chromosome 20, at position 13.3 (20p13.3).