9/7/2023 0 Comments Scn1a dendrite axonFor this disorder, a multigene panel that also includes deletion/duplication analysis is recommended (see Table 1).įindings in a family illustrating variable expressivity among individuals with the same pathogenic variant. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. Pregnancy management: Pregnant women should receive counseling regarding the risks and benefits of the use of anti-seizure medication during pregnancy the advantages and disadvantages of increasing maternal periconceptional folic acid supplementation to 4,000 µg daily the effects of pregnancy on anticonvulsant metabolism and the effect of pregnancy on maternal seizure control.Īn epilepsy multigene panel that includes SCN1A and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Sleep deprivation, which can exacerbate seizures, should be avoided. Activities in which a sudden loss of consciousness could lead to injury or death (e.g., bathing, swimming, driving, or working/playing at heights). Surveillance: Serial neuropsychological evaluation for neurologic, cognitive, and behavioral deterioration EEG monitoring for new or different seizure types polysomnography should be considered if obstructive or central sleep apnea is suspected.Īgents/circumstances to avoid: ASMs: carbamazepine, lamotrigine, and vigabatrin, which can induce or increase myoclonic seizures phenytoin, which can induce choreoathetosis rufinamide may exacerbate seizures as well acetaminophen, which is hepatotoxic. Persons with epilepsy should be made aware of motor vehicle driving laws. Prevention of secondary complications: Use of protective helmets by individuals with atonic seizures or myoclonic-astatic epilepsy. Routine seizure and personal safety education is indicated. Parents are advised to take a CPR course. Use of the ketogenic diet to decrease seizure frequency has been beneficial in some affected individuals. Phenobarbital is effective but poorly tolerated because of its effects on cognition. Levetiracetam is often effective, but may make seizures worse in some individuals. Anti-seizure medication (ASM): clobazam (can be used for treatment of seizures in Lennox-Gastaut syndrome) stiripentol, benzodiazepines, cannabidiol, topiramate, levetiracetam, valproic acid, and ethosuximide. Seizure control is critical to prevent permanent injury and death. Treatment of manifestations: Care is best provided by a physician (e.g., pediatric epileptologist) familiar with the pharmacotherapy for this disorder.
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