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| content:developmental_and:or_epileptic_encephalopathy_with_spike-wave_activation_in_sleep_d:ee-swas [2024/03/23 20:16] – [Genetics] biju.hameed@gmail.com | content:developmental_and:or_epileptic_encephalopathy_with_spike-wave_activation_in_sleep_d:ee-swas [2024/03/23 20:47] (current) – [EEG] biju.hameed@gmail.com | ||
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| * Children may present with an auditory agnosia where they do not recognize common sounds, such as the doorbell or telephone ringing. They show loss of understanding and have an acquired aphasia. | * Children may present with an auditory agnosia where they do not recognize common sounds, such as the doorbell or telephone ringing. They show loss of understanding and have an acquired aphasia. | ||
| * Seizures do not occur in all children. When present they may range from easily controlled focal motor seizures to drug-resistant seizures of multiple types | * Seizures do not occur in all children. When present they may range from easily controlled focal motor seizures to drug-resistant seizures of multiple types | ||
| - | * Specific focal epilepsy syndromes, such as [[SeLECTs]] and [[SeLEAS]], or other structural focal epilepsies may evolve to D/EE-SWAS, either transiently or for a prolonged period. | + | * Specific focal epilepsy syndromes, such as [[content: |
| ==== Clinical Features ==== | ==== Clinical Features ==== | ||
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| * The background activity during wakefulness may show focal or diffuse slowing and often contains focal or multifocal discharges, but it may be normal. | * The background activity during wakefulness may show focal or diffuse slowing and often contains focal or multifocal discharges, but it may be normal. | ||
| * Epileptiform discharges during wakefulness are not continuous. | * Epileptiform discharges during wakefulness are not continuous. | ||
| - | * In drowsiness and sleep, there is marked activation of epileptiform activity, with almost continuous, slow (1.5-2Hz) spike-wave in slow sleep, often occupying >50% of slow sleep. Typically, this activity is also seen in Stage II sleep[(: | + | * In drowsiness and sleep, there is marked activation of epileptiform activity, with almost continuous, slow (1.5-2Hz) |
| * SWAS is usually diffuse but may occur more focally (typically frontally) or multifocally. | * SWAS is usually diffuse but may occur more focally (typically frontally) or multifocally. | ||
| * In REM sleep, the discharges become less frequent or may even be absent. | * In REM sleep, the discharges become less frequent or may even be absent. | ||
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| * Pathogenic variants in //GRIN2A// are associated with a range of severity of D/EE-SWAS phenotypes | * Pathogenic variants in //GRIN2A// are associated with a range of severity of D/EE-SWAS phenotypes | ||
| * These individuals have a characteristic speech pattern which may persist into adult life. Patients with GRIN2A-related speech problems and epilepsy may substitute or omit sounds or syllables. They may speak slowly, use short words, or highlight unwanted areas. They may speak hoarsely or breathlessly. They may speak nasally[(: | * These individuals have a characteristic speech pattern which may persist into adult life. Patients with GRIN2A-related speech problems and epilepsy may substitute or omit sounds or syllables. They may speak slowly, use short words, or highlight unwanted areas. They may speak hoarsely or breathlessly. They may speak nasally[(: | ||
| + | * A family history of seizures is found in up to 50% of D/EE-SWAS individuals. | ||