Neurodevelopmental disease Flashcards
(117 cards)
1
Q
What is DSM-5 used for
A
To categorise different conditions in abnormal mental state such as depression and bipolar disorder
2
Q
Depression categories
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Minor depression includes 2-4 symptoms
Major depression includes 5 or more symptoms
3
Q
What is dysthymia
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Milder form of depression but is long lasting(must last for at least 2 years)
4
Q
Parts of the brain involved in depression
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HPA axis- Reduced energy
Attention/Cognitive impairment-prefrontal cortex
5
Q
Hypothalamic pituitary adrenal axis(HPA)
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Part of the brain responsible for adjusting the balance of hormones especially to stress affecting the immune system(inhibiting metabolism)
6
Q
Monoamine hypothesis
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Modulation problems can cause depression
7
Q
Reserpine
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A drug that controlled blood pressure caused depression in 20% of patients(affected serotonin and catecholamines)
8
Q
Treatment for depression
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Anti depressants block the re-uptake of neuropenepherine and serotonin transporters
9
Q
SSRI drugs
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Block serotonin transporters in depression
10
Q
MAO inhibitors
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Reduce degradation of serotonin in depression patients
11
Q
Target for newer antidepressants
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work on the CRH receptor which affects HPA axis
12
Q
Stress on depression
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Stress usually comes from cortisol and effects 5ht receptors and NA
The cortisol will change the structure of receptors of 5HT
13
Q
CHR in depression
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Stimulates secretion of ATCH increasing cortisol levels
14
Q
Theureptic effects on depression
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delayed 3-4 weeks but increase throughout the plasma
15
Q
Moamine inhibitors for depression
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Can cause seizures due to allergic reaction Cheese reaction is when foods like cheese increase NA and goes straight into the blood stream
16
Q
Psychotherapy
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Best at treating mild depression uses neurocortical control over activity patterns
CBT is most commonly used
17
Q
Tricyclic antidepressants
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enhance NE and 5HT by blocking uptake and are unselective compared to SSRI’s
18
Q
What is bipolar disorder
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The main symptoms of bipolar disorder are episodes of extreme highs and lows
19
Q
treatment of bipolar disorder
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Cannot be treated alone by anti depressant usually needs anti psychotic and is used to stabilise moods instead of going into mania and depression
20
Q
What is mania in bipolar disorder
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a state of mind characterized by high energy
21
Q
Stress on bipolar disorder
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Stress increases mania as it activates the hippocampal system
22
Q
co morbility involved with bipolar
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Anxiety- hyperactivation of fear in hippocampus and amygdala
OCD- inefficient CTSC for regulating behaviour
23
Q
alcohol and anxiety
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co mobility between alcohol and anxiety
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Q
Co mobility with depression
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co mobility between anxiety, Major deppresion and panic disorder
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PTSD
diagnosed after a person experiences symptoms for at least one month following a traumatic event.
Re-experiencing the trauma through intrusive distressing recollections of the event, flashbacks, and nightmares
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OCD
An obsession is an unwanted and unpleasant thought, image or urge that repeatedly enters your mind, causing feelings of anxiety, disgust or unease
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Anxiety on rats experiment
Conditioned to responed to stressful event via a shock and causes acrivity in the amygala
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ADHD
ADHD is being more difficult to pay attention resulting in behavioural problems and peer rejection
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Categories of ADHD
Inattentiveness (difficulty concentrating and focusing)
Hyperactivity and Impulsiveness
Combined
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Diagnosis of ADHD
Takes a while to diagnosis it is done over 10 weeks and the use of schools
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Nueroinflamation in ADHD
Nueroinflamation occurs maybe from neurotransmission imbalance
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Genes in ADHD
A lot of genes affect DA transporters and serotonin are impaired-DAT1 gene
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Brain structure in ADHD
Frontal lobe function is affected linked to attention
Smaller brain volume
Pre frontal cortex reduced and pre motor cortex reduced
Reduction in grey matter and cortical thinning
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co mobility with ADHD
75% of ADHD have 1 or more psychiatric disorders and is more likely to miss other disorders(depression or anxiety)
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Dopamine transporters in ADHD
Higher dopamine transporter in ADHD - May mean there is not enough dopamine that is why there is more transporters
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Phasic phase
Phasic phase happens where there is more dopamine usually due to a reward
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Treatment for ADHD
Parent training and attention training is first line then medication and CBT is last result
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prefrontal cortex in ADHD treatment
extremely sensitive to its neurochemical environment, particularly dopaminergic and noradrenergic signalling
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Side effects of ADHD drug treatment
Loss of appetite
Sleep disturbance
Increased blood pressure
Headache
Motor activity is reduced
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Functional epilepsy
When you are so stressed it causes a seizure
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Primary Motor stereotype
Seen in neurotypical children
Stabilise or regress as children age
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Secondary Motor stereotype
Appears along with neurological disorder
Rett syndrome, ASD or metabolic disorders often primary cause
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Kinesiogenic in Motor disorders
- Kinesiogenic (induced by movement or startle)
- Non-kinesiogenic dyskinesias are triggered by other factors (stress, fatigue, alcohol/caffeine)
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Motor tics
can be simple (single area, eye blinking etc) or complex (repetitive and/or compulsive sequences)
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Phonic/vocal tics:
grunting, throat clearing, whooping, sniffing etc. up to words and repetition.
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Rat experiment for Tics
In between test a sequence of behaviour will occur where they were not sure which behaviour was giving them reward so sterotypies occur in the brain because if they don't do it they wont get a reward
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Echopraxia in tics
mimicking the actions or gestures of others(often happens in children)
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Akathisia in tics
Restlessness – the compulsion to move or walk around to alleviate a perceived feeling of discomfort
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Hyperekplexia
Excessive startle resulting from hypertonicity
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Sociogenic illness
When people pick up other peoples behaviour but it is not tourette's
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The cortico-striato-thalamo-cortical circuit (CTSC) in tics
A lot of the sensory information occurs in the thalamus and other parts of the brain including the basal ganglia communicate with each other in a circuit to the cortex and is said goes wrong in the brain
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HPA in tics
When external stressors activate the hypothalamic-pituitary-adrenal (HPA) axis, more dopamine is produced, furthering the excitation of tic-producing pathways.
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CTSC Dysfunction in Tics
Small shifts causes massive changes even in animals
Striatum: In individuals with tic disorders, there is evidence of abnormal activity within the striatum, a component of the CSTC circuit.
Imbalance in cortex, striatum, and thalamus can cause ticks
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What Is a rare disease
A rare disease in the Uk is a condition that affects less than 1 in 2000 people
80% of rare diseases are genetic
75% of rare diseases affect children
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Why rare disease in neuroscience
A majority of rare diseases are affect the brain
Many of rare diseases are incurable
Neurological aspect of the disease affects the mortality of the individual
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Stages of rare disease
Helping patients get a diagnoses faster
Increasing awareness of rare disease among health care professionals
Better coordination of care
Improving access to specialist care, treatment and drugs
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Common identifiers in rare disease(epilepsy)
600 genes identified to cause metabolic epilepsy
37% of metabolic epileptics are inherited
100+ genes identified as rare form causing at least 700 distinct rare epilepsy syndromes
Rare epilepsy are more resistant to drugs
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Mitochondrial dysfunction in rare disease
Primary mitochondrial disease is caused by mutation in mtDNA(Used to distribute genetic variation)
Secondary mitochondrial disease is where mitochondrial dysfunction is a driver in the diseases progression causes epilepsy and neuro degradation
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Lysosomal dysfunction
Lysosomal storage disorder are inborn errors of metabolism leading to accumulation of substances in the cells
2/3 exhibit neurological impairment
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Tuberous sclerosis complex in rare disease
Genetic disease caused by mutation in TSC1 and TSC2 genes associated with brain lesions(tubers)
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Link between TBS and epilepsy
80-90% of TSC experience epilepsy
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How brain sessions occur is TSC
Gillal and ballon cells expand in the brain
Small accumulation of calcium occurs leading to benign brain tumours
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TSC affected levels
Behavioural
Psychiatric
intellectual
Academic
physioscocial
Neuropsychological
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Tsc in the lungs
Lung cancer occurs in smooth muscle cells which form cyst making it harder to breath
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AML in TSC
Another tumour that occurs in the kidney
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TSC1&2 Gene
TSC1 gene encodes the protein hamartin. TSC2 gene encodes the protein tuberin.
Together, the TSC1 and TSC2 protein form a complex which functions as inhibitor of the mammalian target of rapamycin (mTOR) pathway.
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mTORC1 in TSC
TSC is associated with mTORC1 hyperactivity; and less so dysfunction in mTORC2.
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protein S6 is TSC
Phosphorylation of protein S6 is often used as indicator of mTORC1 activity.
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Everolimus in TSC
Everolimus is a drug similar structure to Rampamycin and leads to the reduction of mTOR pathway
Use of Everolimus reduces the size of tumours in the brain but when taken off Everolimus tumour grows again
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Cerebral palsy
broad collection of neurological diseases involving difficulty in movement, muscle tone and balance
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Cause of CP
No one cause of cerebral palsy but caused by damage or hypoxia(lack of oxygen) in the brain either pre or peri natal
It can be genetic
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Pre natal causes of CP
Polyhydraminos too much fluid in the womb causes issue during pregnancy
Ritodrine = Beta2 Adrenoceptor agonist used to prevent premature labour
Physical trauma near birth
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Oxygen debt in CP
causes less ATP prduction and cannot cause channels to work properly .The gradient becomes less between the membrane and causes more excitability.
When oxygen debt comes back it causes much more reactants
Cause loss of grey matter
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Types of CP
Spastic- Muscle are too stiffMotor cortex is usually damaged
Dyskinetic- Fluctuating muscle tone caused by damage to basil ganglia
Ataxic- Motor function deficits including speech usually damaged cerebellum
Mixed-More than one of the above
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Spastic CP type
Can be uni lateral or affect the whole body
Most common type
Skeleton will lean to one side due to change of muscle tone
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Ataxic CP
causes walking with a wider stance to have a better base
Eye co ordination and hearing are secondary symptoms
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Treatment of CP
Occupational therapy can improve motor functions and hand eye coordination as well as adapting equipment for use
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Botox in CP
lp with ataxia
Botox is used to relax muscle and casts also used to eventually improve stretching
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Selective Dorsal Rhizotomy in CP
erves are identified and use of a computer can identify which nerves can be striped
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CP and epilepsy
There is a correlation between CP patients and epilepsy the main type being focal seizure
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Rett syndrome
Rett syndrome is impairment in hand skills, verbal, verbal communication and progression motor
More likely in girls because it is x linked
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MECP2 in Retts syndrome
MECP2 is usually the reason for Rett syndrome
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Receptors in Retts syndrome
Rett is regressive because receptors are put in the wrong place(receptor expression) and regulates mRNA production so less proteins are made for AMPAR receptors
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Expression in Retts syndrome
MECP2 regulates expression of certain genes at synapses
Under an over expression leads to changes in the synapse but LTP is always low if not modulated
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Drug treatment for Retts syndrome
Drug treatment is the use of specific proteins to trigger MECP2 activation
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fragile X syndrome
disease occur due to altercation of chromosomes Described as a genetic disease
Chromatin gets condensed to a point where it is fragile
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fragile X syndrome genes
FMR1 gene that codes for FMRP
FRMP provides protein synthesis for neurones in dendrites
FRMP leads to an increase in inotropic glutamate
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Down syndrome and intellectual disability
DS is the most frequent chromosomal cause of mild to moderate intellectual disability
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Testing for Down syndrome
Chorionic villus sampling: A sampling of the placental tissue between 10-13 weeks after conception
Amniocentesis: Needle is inserted through abdominal wall and a syringe is used to extract amniotic fluid performed 16-20 weeks into pregnancy
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Characteristics of Down syndrome
Flattened appearance to face
Small ears
Shorter height due to hypothyroidism(under-active thyroid)
Poor muscle tone
Early onset for Alzheimer's, memory loss and Dementia
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Robertsonian translocation down syndrome theory
s when some one has 45 chromosomes instead of 46 lost of this chromosome happens between 13,14,15,21,22
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Roboerstonian person
Roboerstonian person is healthy but problems occur when having a child
When having a baby trisomy can happen where the baby will have crossing over of 3 of the same chromosome can cause serious complication
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Chromosome 21 knockdown in mice
Gene FRM1 was knocked out in mouse and house flies to identify brain function
Knockout mice is deleting a gene to figure out its purpose and can later be used to genetically engineer
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TS65DN gene in Down syndrome
Causes an effect on the GIRK2 channel that in increases GABA responsible for inhibiting neuronal inhibition
Affects heart and sodium channels in hippocampus
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Trisomy and APP gene
APP(Amyloid Precursor Protein) is s G protein cell signalling and causes cell adhesion. Amyloid-B peptide is the main component in amyloid plaques that cause Alzheimer's
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Autism
is a developmental disorder characterised by stereotyped social interaction impairment.
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Autistic children
usually have accelerated growth in the brain and too many axons formed
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5 types of autism
Autistic Disorder
Asperger’s Disorder
PDD-NOS (not otherwise specified)
Childhood Disintegrative Disorder
Rett’s Syndrome
Rett syndrome is more aggressive and causes decline in health
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Echolalia in Autism
Is the repeating of what someone said
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Primary behaviour in Autism
Lack of eye contact
Minimal face expression
Lack of attention
Egocentric social interactions
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Autism development
Autism is usually pre natal and affects happen during neurogenesis, synaptogenesis and programmed apoptosis(cell death)
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Proliferation in Autism
Switching on and off of genes manage proliferation around 20,000 genes in a human
Master gene controller affects the switching on and off of genes that effect neurodevelopment disease
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Productive and subtractive neurodevelopment in autism
roductve:
Neurogenesis and differentation
Migration and synptogensis
Myelination
Subtractive:
Apostosis
Synaptic re-organisation
Synaptic pruning
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What phase autism starts
Autism begins in the G1 phase
Overgrowth of neurones(proliferation) occurs especially in the cortex of cells
G1 cells over produce
Epoch are the master regulators and Epoch 1 and 2 levels are different in autistic people
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Von Economo Neurones in Autism
Von Economo Neurones are important in social interactions
Lots of VEN means more emotions
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Neuroligins and neurexins
Without Neurexins they are fewer GABA cells
Without neuroligins reduced brain volume
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Shank3 in Autism
show greater dendritic complexity
interacts with a variety of ionotropic and metabotropic glutamate receptors
Restoration of Shank3 can lead to reverse in some autism
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Valproic acid in autism
Valproic acid causes a higher risk factor for autism
VPA inhibits histone H3 and H4 deacetylation
In VPA it allows for transcription of all genes for ones that should not be expressed
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Epilepsy
imbalance between inhibition and excitation is what epilepsy
30,000 synapses on a typical cell, a mix of Glu and GABA
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GABA in epilepsy
GABA inhibition means spikes are synchronised so it inhibits making gaps in between signals
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Phases in seizures
Tonic phase is first stiffening of the muscle
Clonic Phase is repeated stiffening of muscles
post ictal phase person is confused and is when the episode if over
Partial seizure occurs when a person doesn't know they have a seizure
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AMPA in Epilepsy
AMPA causes glutamate response which is inhibitory
NMDA receptors have a slower onset
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GABA in epilepsy
GABAa reduces transmission in neurones
GABAb excites neurones
Work together to cause balance
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Intrinsic inhibition in epilepsy
Excitation and inhibition must be managed
Loss of inhibition and cell becomes more excitable causing multiple spikes
Glutamate causes more excitation and GABA causes more inhibition
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Ions in epilepsy
sodium and calcium ions into the cell cause increase in excitability and potassium in and chlorine ions out causes repolarisation
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Drug treatment for epilepsy
Drug treatment uses gaba and release Na-channel blockers and calcium channel blockers
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Epilepsy surgery
Intervention to remove an identified ‘focus’
70% success rate, now used earlier
But later on seizure arises again
