8- Ca and Gene Expression Flashcards
VGCC Subunits
Α 1 forms pore
Α 2- attached to membrane through delta (not directly attached to membrane)
Delta
Beta
Gamma
Sudden Unexpected Death in Epilepsy (SUDEP)
Most common cause of death as a result of complications in epilepsy
Cardiac and respiratory arrests
Risk Factors of SUDEP
Young age
Early onset of epilepsy
Often occurs in sleep
More frequent in males
Timothy Syndrome
Very rare disorder
Variants in CAv1.2 subunit (α 1 of L type -high voltage) responsible
Affects
Heart
Digits
Nervous system
Timothy Syndrom-Heart
Long QT syndrome
Causes cardiac muscle to take longer to recharge between beats
Timothy Syndrome- Digits
Webbing or fusion of skin between fingers and toes
Timothy Syndrome- Nervous System
Many patients have features of autism (imparied communication, delayed speech)
Intellectual disability
Seizures
Type 1 Timothy Syndrome-
Classic
Includes all characteristics
Type 2 Timothy Syndome
Atypical
More severe form of long QT syndrome
Greater risk of arrhythmia and sudden death
ipSC
Induced Pluripotent Stem Cells
TF IEGs
C-fos
Egr1
Npas4
Synaptic Effector IEGs
Arc
Homer1a
