Epilepsy Genetics Neuromuscular Potpourri Medications
100
What is fast polyspike and wave?
This is the EEG pattern in Juvenile Myoclonic Epilepsy.
100
What is CLCN1?
This gene is mutated in myotonia congenita.
100
What is spinal muscular atrophy?
The survival motor neuron gene is responsible for this disease.
100
What is steroids?
This is the treatment of an acute flair of opthalmoplegic migraine.
100
What is Rizatriptan or Maxalt.
This triptan is FDA approved for use in children as young as six years old.
200
What is MERRF?
This mitochondrial deletion syndrome causes a progressive myoclonic epilepsy.
200
What is 1A?
This is the most common form of Charcot Marie Tooth.
200
What is steroids?
This is a treatment for Duchenne's muscular dystrophy.
200
What is Aicardi Syndrome?
Retinal lacunae are found in this genetic syndrome associated with agenesis of the corpus callosum.
200
What is decrease.
Pregnancy does this to Lamictal blood levels.
300
What is hypoxic ischemic encephalopathy?
This is the most common reason for seizure in the first day of life.
300
What is doublecortin.
A mutation in the gene DCX causes this form of lissencephaly.
300
What is myotonic dystrophy?
This is also known as Steinert's disease.
300
What is NF-2?
Meningioma is a tumor that may present in this neurocutaneous disease.
300
What is Depakote?
This is the first line treatment for chorea in Sydenham's.
400
What is burst suppression?
This EEG pattern is present in Ohtahara Syndrome.
400
What are tuberin and hamartin.
These two proteins are involved in Tuberous sclerosis.
400
What is myotonia congenita?
The warm up phenomenon is present in this disease which includes myotonia?
400
What is Dopa responsive dystonia?
This is a hereditary progressive dystonia that has diurnal variation in symptoms.
400
What is carbamazepine?
This medication undergoes self induction.
500
What is Jeavon's?
This form of epilepsy is characterized by eyelid myoclonia, eyelid closure self induced seizures and photosensitivity.
500
What is chromosome 17?
This PMP22 gene is located on this chromosome.
500
What is DOK7?
This form of congenital myasthenia can be worsened with Mestinon.
500
What is myelomeningocele?
Chiari 2 malformation is associated with this malformation.
500
What is Felbamate?
This antiepileptic has a black box warning for aplastic anemia.






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