Ataxia
Ataxia secondary to cerebellar atrophy is a common long term side effect of this anti seizure medication
What is phenytoin?
Age range at which PDR typically reaches 9-10Hz
What is 8-10 years old?
Optic nerve gliomas are a diagnostic consideration in this inherited neurocutaneous syndrome?
What is NF1?
This is the first line treatment for SUNCT/SUNA
What is lamotrigine?
This AD condition associated with KCNQ2 usually presents with seizures in children 2-3d old who are otherwise healthy
What is benign familial neonatal epilepsy?
A child with ataxia, recurrent sinus/pulmonary infections, elevated serum alpha fetoprotein and increased risk for lymphoma/malignancy?
What is ataxia telangiectasia?
The age at which sleep spindles typically form
What is 44 weeks?
Neurocutaneous syndrome associated with Merlin protein mutation on chromosome 22
What is NF2?
Intense neuronal and glial depolarization associated with migraine aura
What is cortical spreading depression?
This syndrome associated with SCN1A is characterized by febrile seizure beyond 6 years of age in addition to generalized seizures when not febrile
What is GEFS+? Genetic Epilepsy with febrile seizures +
CACNA1A is associated with this inheritable form of ataxia that is treated with acetazolamide
What is episodic ataxia type 2?
Type 1 is treated with carbamazepine.
This fatal condition is characterized by 0.5-1Hz GPDs with myoclonic jerks worsened with startle
What is CJD?
This is the tumor you may find in a patient with seizures and facial angiofibromas
SEGA (tuberous sclerosis)
Response to indomethacin is so classic in this condition (unilateral headache lasting 30 mins 15-40x/day with autonomic symptoms) that it’s considered part of the diagnostic criteria
What is paroxysmal hemicrania?
A 2-5 year old boy previously normal who develops multiple generalized seizures (myoclonic, atonic) and then has developmental regression. EEG shows 2-5Hz spike and wave discharges
What is Doose syndrome? (Myoclonic-Atonic Epilepsy)
A coenzyme Q analogue that can be used to treat Friedrich’s ataxia
What is idebenone?
A myoclonic epilepsy syndrome that develops weeks to months after a hypoxic ischemic insult
What is Lance Adams syndrome?
What is the gene and genetic pattern associated with Sturge Weber Syndrome?
GNAQ and spontaneous, mosaic pattern. Not inherited.
This highly treatment resistant headache can have features of migraine or tension headache and must be present for 3 months to diagnose
What is new daily persistent headache?
Genes associated with rasmussen encephalitis
GluR2 and GluR3 (Glutamate receptors)
CAG repeat of the ATN1 gene in a an elderly japanese male who presents with ataxia, seizures, and dementia?
What is dentatorubro pallidoluysian atrophy?
Notched delta activity is a fairly specific sign of this genetic syndrome
What is Angelman syndrome?
This is the name for sturge Weber syndrome when there’s a spinal dural angioma and a port wine stain in the corresponding dermatome
What is Cobb syndrome?
What are triptans?
AR disorder associated with EPM2A that presents with occipital seizures and progresses to vision loss and death within 10 years. Pathology will show PAS positive inclusions comprised of polyglucosan
What is Lafora body disease?