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