Term
| In neurons, high ___ outside the cell, high ___ inside the cell |
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Definition
High Na+ outside
High K+ inside |
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Term
| Resting membrane potential of neuron |
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Definition
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Term
| Protein that forms gap junctions necessary for flow of metabolites in schwann cells (to make myelin) |
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Definition
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Term
| Protein that catalyzes the fusion of vesicles with the cell membrane |
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Definition
SNARE
vesicle SNARE is synaptobrevin
target membrane SNARE is syntaxin |
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Term
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Definition
| cleaves synaptobrevin to block inhibitory interneuron transmission of glycine and GABA |
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Term
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Definition
| disrupts synaptobrevin to block Ach release from presynaptic terminals |
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Term
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Definition
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Term
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Definition
| ionotropic glutamate receptor |
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Term
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Definition
| ionotropic glutamte receptor |
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Term
AMPA receptor type
- an antogonist for this |
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Definition
ionotropic glutamate receptor
- parampanel is an antagonist |
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Term
Dopamine Beta-dehydroxylase deficiency
- result
- symptoms |
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Definition
Deficiency in NE and Epi, excess dopamine
Nasal stuffiness, orthostatic hypotension and syncope, hypoglycemia
Autosomal recessive
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Term
Alpha 1 adrenergic receptor
- 2 actions |
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Definition
- smooth muscle contraction
- glycogenolysis |
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Term
Alpha 2 adrenergic receptor
- action |
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Definition
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Term
| Beta 1 adrenergic receptor action |
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Definition
| increase HR and contractility |
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Term
| Beta 2 adrenergic receptor action |
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Definition
| relaxes detrusor, vasodilation, bronchiodilation |
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Term
| Beta 3 adrenergic receptor action |
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Definition
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Term
| Serotonin is synthesized from ___ by ___ |
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Definition
| synthesized from tryptophan from tryptophan hydroxylase |
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Term
GLUT1 deficiency
- MOA
- symptoms
- treatment |
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Definition
MOA: cannot transport glucose across the BBB
symptoms: Seizures and refractory absence epilepsy
Tx: ketogenic diet |
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Term
| Vitamin A toxicity can cause ___ |
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Definition
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Term
Tauopathy or alpha-synucleopathy?
- AD
- FTD
- Lewi body
- MSA
- PSP
- Corticobasal degeneration
- PD |
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Definition
Tauopathies:
PSP
Corticobasal degeneration
FTD
AD
Alpha-synucleopathies:
Lewi Body
MSA
PD |
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Term
| Describe arnold chiari type 1, 2, 3, and 4 |
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Definition
Type 1: herniation of cerebellar tonsils >5mm +/- synringomyelia
Type 2: classic, larger vermian displacement, beaked midbrain, +/- encephalocele
Type 3: small posterior fossa and high cervical or occipital myelocele
Type 4: cerebellar hypoplasia |
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Term
FLNA (filamin a) mutation
- genetics
- Result |
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Definition
X linked
Causes periventricular nodular heterotopia |
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Term
Lis1 gene mutation
- genetics
- result |
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Definition
X linked, affects dynein
- smooth brain |
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Term
RELN mutation
- genetics
- results |
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Definition
AR on chromosome 7
cerebellum and brainstem degeneration and cobblestone (poorly formed) cortex |
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Term
DCX mutation
- genetics
- results |
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Definition
X linked, mostly in females
- if male= lisencephaly
- If female= double cortex |
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Term
Name the disease and gene/ protein involved:
- difficulty initiating gait that resolves with walking
- Difficulty releasing clenched palm
- Calf and proximal leg hypertrophy
- Dive bomber sound on EMG |
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Definition
Myotonia congenita
CLCN1 (Cl- ion in muscle makes muscle hyperexcitable) |
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Term
Name the disease and gene/protein involved:
- Difficulty with opening eyes after clenched shut
- stiffness/paralysis after exercise and in cold exposure that improves with warming up
- Absent ankle and knee reflexes
- K+ normal |
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Definition
Paramyotonia Congenita
AD inheritance of SCN4A (Na+ channels) |
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Term
Name the disease, genetics, and protein involved
- Episodes of flaccid weakness provoked by illness, cold, or carbohydrate load
- |
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Definition
Hypokalemic (of lok K) or hyperkalemic (if high K) periodic paralysis
- AD on CACNA15 or SCN4A (calcium or Na channel) |
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Term
Familial hemiplegic migraine
- 4 Most common genetic mutations |
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Definition
CACNA1a
SCNa1
ATP 1A2
SCAc |
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Term
Name the disease and gene mutation
- Strong family history of GTC febrile seizures |
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Definition
GEFS+ (Generalized epilepsy with febrile seizures +)
AD mutations in SCN1a (Na), GABRG2 (Cl), or SCN1b (Na) |
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Term
Name the disease and gene mutation
- prolonged febrile status epilepticus starting in 1st eyar of life
- Multiple seizure types including myoclonic jerks
- MR at 1.5 years and hyperkinetic behavior, ataxic gait |
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Definition
Dravet
SCN1A (Na channel loss of function specific for GABA interneurons) |
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Term
Name the disease
- Childhood nighttime seizures occurring in clusters
- arm flinging, leg bicycling movements, grunting
- Fall back to sleep immediately |
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Definition
AD nocturnal frontal epilepsy
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Term
Name the disease and genetics
Seizures starting with a buzzing/partially located sound that run in a family |
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Definition
AD partial epilepsy with auditory features
LGI1 (voltage gated K channel) |
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Term
Name the disease and mutation
- Infant with brief jerky movements, stiffness to tactile stimulation, exaggerated DTRs |
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Definition
Hereditary Hyperekplexia
GLRA (related to glycine Cl- ion) |
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