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• W2920005429 abstract "Clinical characteristics KCNT1-related epilepsy is most often associated with two phenotypes: epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Less common seizure phenotypes in individuals with KCNT1-related epilepsy include West syndrome, Ohtahara syndrome, early myoclonic encephalopathy, leukodystrophy and/or leukoencephalopathy, focal epilepsy, and multifocal epilepsy. Additional neurologic features include hypotonia, microcephaly developing by age 12 months, strabismus, profound developmental delay, and additional movement disorders. Other systemic manifestations including pulmonary hemorrhage caused by prominent systemic-to-pulmonary collateral arteries or cardiac arrhythmia have been reported. Diagnosis/testing The diagnosis of KCNT1-related epilepsy is established in a proband with intractable epilepsy and identification of a heterozygous pathogenic variant in KCNT1 by molecular genetic testing. Management Treatment of manifestations. KCNT1-related epilepsy is often refractory to conventional anticonvulsants; stiripentol, benzodiazepines, levetiracetam, and the ketogenic diet have all been well tolerated with limited success; quinidine has been used as an off-label anticonvulsant with success in some individuals; in rare cases of pulmonary hemorrhage due to systemic pulmonary collaterals, embolization has been recommended; developmental support is appropriate. Surveillance. EEG at intervals determined by seizure frequency and progression, for evaluation of new involuntary movements or unexplained, paroxysmal changes in vital signs, or following adjustments to an anticonvulsant regimen; monitoring of development. Agents/circumstances to avoid: For individuals with ADNFLE, activities in which a sudden loss of consciousness could lead to injury or death should be avoided (e.g., bathing, swimming, driving, or working/playing at heights). Pregnancy management: For women with ADNFLE, a discussion of the risks and benefits of using a given antiepileptic drug during pregnancy should ideally take place before conception. Transitioning to a lower-risk medication prior to pregnancy may be possible. Genetic counseling KCNT1-related epilepsy is inherited in an autosomal dominant manner. The majority of affected individuals represent simplex cases (i.e., a single occurrence in a family) resulting from a de novo KCNT1 pathogenic variant. The proportion of cases caused by a de novo pathogenic variant varies by phenotype. All individuals diagnosed with KCNT1-related epilepsy of infancy with migrating focal seizures (EIMFS) have the disorder as the result of a de novo pathogenic variant or an inherited variant from an unaffected parent with somatic and/or germline mosaicism. Some individuals diagnosed with KCNT1-related autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) have an affected parent. Each child of an individual with KCNT1-related epilepsy has a 50% chance of inheriting the pathogenic variant, and intrafamilial clinical variability and reduced penetrance have been reported. Prenatal diagnosis for pregnancies at increased risk and preimplantation genetic diagnosis are possible if the pathogenic variant in the family is known." @default.
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• W2920005429 date "2018-09-20" @default.
• W2920005429 modified "2023-09-26" @default.
• W2920005429 title "KCNT1-Related Epilepsy" @default.
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