Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital. All rights reserved.Īrenas-Cabrera C, Baena-Palomino P, Sánchez-García J, Oliver-Romero M, Chocrón-González Y, Caballero-Martínez M. GeneReviews is a registered trademark of the University of Washington, Seattle. Once the DEPDC5 pathogenic variant(s) have been identified in an affected family member, prenatal and preimplantation genetic testing are possible.Ĭopyright © 1993-2023, University of Washington, Seattle. ![]() If both parents of a proband have a DEPDC5 pathogenic variant, sibs have a 75% chance of inheriting one or two pathogenic variants and a 25% chance of inheriting neither pathogenic variant and not being affected. If one parent of the proband has a DEPDC5 pathogenic variant, the risk to the sibs of inheriting the pathogenic variant is 50%. The risk to the sibs of the proband depends on the genetic status of the proband's parents. In these families, heterozygous parents may or may not have manifestations of DEPDC5-related epilepsy. ![]() All probands reported to date with biallelic DEPDC5 variants inherited variants from their heterozygous parents. 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.ĭEPDC5-related epilepsy is an autosomal dominant disorder however, affected individuals with germline biallelic missense variants have been rarely reported. 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. Some affected individuals have biallelic variants in DEPDC5, and some have a second mosaic (or postzygotic) DEPDC5 variant within the brain. The diagnosis of DEPDC5-related epilepsy is established in a proband with suggestive findings and at least one heterozygous pathogenic variant in DEPDC5 identified by molecular genetic testing. ![]() Although psychomotor development is usually normal, developmental delays, intellectual disability, or autism spectrum disorder have been reported in some individuals. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), infantile spasms, and severe developmental encephalopathy. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia or hemimegalencephaly. DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain.
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