2021 Epilepsy Quiz-A-Day #5

Epilepsy Quiz-A-Day #5

Question Title

* Please use the same name and email address each day that you play so you can get credit for all your correct answers. AES will announce top scorers by name only. Your contact information will not be shared.

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* A 7-year-old girl began having seizures at 6 months of age. Initially seizures involved clonic jerking of one arm and leg, often lasting longer than 10 minutes. At 13 months of age, she began having generalized tonic clonic seizures and episodes of myoclonic jerks, often in clusters. Her development was initially normal. By the age of 5 years, she had social, language, and fine motor impairments. Multiple antiseizure medications lacked efficacy and treatment with oxcarbazepine led to an increase in seizure frequency. A gene panel revealed a heterozygous pathogenic variant. What is the most likely pathogenesis of her disorder?

Gain of function mutation in SCN1A leading to a positive shift in the voltage dependence of fast inactivation of the voltage-gated sodium channel Nav1.1

Loss of function mutation in SCN1A resulting in haploinsufficiency of the α subunit of the voltage-gated sodium channel Nav1.1

Gain of function mutation in KCNQ2 leading to decreased current densities of both homomeric and heteromeric Kv7.2 channels without affecting voltage dependence

A mutation in the X-linked PCDH19 resulting in two populations of cells either with unaltered or variant protocadherin leading to inability of cells to adhere to each other properly

Loss of function mutation in TSC1 leading to haploinsufficiency of hamartin protein and subsequent misregulation of the mammalian target of rapamycin complex 1 (mTORC1)