Dravet syndrome
Severe childhood epilepsy
Dravet syndrome is a severe form of epilepsy that begins in infancy, characterized by prolonged seizures often triggered by fever or changes in body temperature.
The condition typically causes developmental delays, speech impairment, and cognitive difficulties as the child grows.
Seizures remain difficult to control with standard medications throughout life.
Involuntary convulsions or takings
- convulsionsInvoluntary muscular contractions
- tonic-clonicSeizure with rigidity and convulsions
- myoclonicPertaining to quick jerks
- febrileHaving a fever
anticonvulsants · EEG · electroencephalogram · ketogenic diet · refractory · aura · postictal · rescue medication
Permanent DNA alteration
- sodium channelProtein allowing sodium passage
- de novoFrom the beginning
- geneHereditary information unit
- variantDiffering form of something
pathogenic · chromosome · DNA · inheritance · genotype · phenotype · geneticist · genetic counseling
Impaired reasoning and adaptive skills
- developmental delaySlower-than-typical milestone achievement
- cognitive impairmentDiminished intellectual function
- language delaySlower verbal milestone attainment
- motor skillsCoordinated bodily movement ability
autism spectrum · behavioral challenges · regression · learning difficulties · speech therapy · occupational therapy · neurodevelopmental · attention deficits
Earliest period of life
- onsetStarting point of something
- early interventionPrompt response to emerging problems
- special educationAdapted instruction for disabilities
- caregiver supportAssistance for those providing care
feeding difficulties · sleep disturbances · IEP · respite care · family support
Non-psychoactive hemp compound
- valproateAnticonvulsant mood-stabilizing compound
- drug-resistantUnaffected by medication
- clinical trialsControlled health research experiments
- emergency protocolPlanned crisis response procedure
seizures
Involuntary convulsions or takings
- convulsionsInvoluntary muscular contractions
- tonic-clonicSeizure with rigidity and convulsions
- myoclonicPertaining to quick jerks
febrile · anticonvulsants · EEG · electroencephalogram · ketogenic diet · refractory · aura · postictal · rescue medication · photosensitivity
mutation
Permanent DNA alteration
- sodium channelProtein allowing sodium passage
- de novoFrom the beginning
- geneHereditary information unit
variant · pathogenic · chromosome · DNA · inheritance · genotype · phenotype · geneticist · genetic counseling · sequencing
intellectual disability
Impaired reasoning and adaptive skills
- developmental delaySlower-than-typical milestone achievement
- cognitive impairmentDiminished intellectual function
- language delaySlower verbal milestone attainment
motor skills · autism spectrum · behavioral challenges · regression · learning difficulties · speech therapy · occupational therapy · neurodevelopmental · attention deficits · social skills
infancy
Earliest period of life
- onsetStarting point of something
- early interventionPrompt response to emerging problems
- special educationAdapted instruction for disabilities
caregiver support · feeding difficulties · sleep disturbances · IEP · respite care · family support
cannabidiol
Non-psychoactive hemp compound
- valproateAnticonvulsant mood-stabilizing compound
- drug-resistantUnaffected by medication
- clinical trialsControlled health research experiments
- Epilepsyseizure, seizures, epilepsy, AED, convulsion
- pediatric neurologyepilepsy, seizures, cerebral palsy, seizure, developmental delay
- channelopathies