Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Notes: (1) Per ACMG/AMP variant interpretation guidelines, the terms " pathogenic variant" and " likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making. Some rare affected individuals have biallelic missense variants in DEPDC5. The diagnosis of DEPDC5-related epilepsy is established in a proband with suggestive findings and at least one heterozygous pathogenic (or likely pathogenic) variant in DEPDC5 identified by molecular genetic testing (see Table 1). Pregnancy management: Pregnant women should receive counseling regarding the risks and benefits of using ASM during pregnancy the advantages and disadvantages of increasing maternal periconceptional folic acid supplementation to 4,000 µg daily the effects of pregnancy on ASM metabolism and the effect of pregnancy on maternal seizure control. This typically entails targeted molecular genetic testing for the known pathogenic variant(s) in the family. Repeat brain MRI with a higher-resolution technique in individuals with treatment-resistant seizures whose first brain MRI was normal to rule out subtle cortical dysplasia.Įvaluation of relatives at risk: It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual in order to identify those who are at risk for developing seizures as early as possible. Repeat EEG as appropriate when seizure frequency increases or when seizures of new symptomatology occur. Surveillance: Assess for new or ongoing neurologic manifestations (such as new-onset seizures or changes in seizure symptoms), predictive factors for sudden unexpected death in epilepsy, and developmental progress at each visit. Standard treatment for developmental delay / intellectual disability and autism spectrum disorders. In individuals with hemimegalencephaly or focal cortical dysplasia and refractory epilepsy, resective epilepsy surgery should be explored early in the disease course. There is currently no evidence that seizures respond better to one specific ASM.
While some individuals respond well to first-line ASMs, others are more refractory to treatment. Treatment of manifestations: The response to anti-seizure medication (ASM) is variable.
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