Epilepsy

Question 1

What is epilepsy?

Answer 1

Disorder that includes recurrent and unprovoked seizures. Epilepsy is not single disease, but it is a group of diseases called epilepsies.

Question 2

How can be epilepsy be diagnosed?

Answer 2

• Blood test
• Brain scan
• There need to be one or more seizure
• Using EEG to check if there is any abnormalities

Question 3

In which three categories can the epileptic seizures be divided into?

Answer 3

• Focal
• Generalized
• Unknown

There can appear also combination of focal and generalized seizures

Question 4

What causes seizures?

Answer 4

Too many neurons become excited simultaneously -> too much excitation and too little inhibition -> seizure. GABA receptor dysfunction is linked to the too little inhibition.

Question 5

What kind of seizures can appear in generalized epilepsy?

Answer 5

• Clonic
• Tonic
• Myoclonic
• Tonic-clonic

Question 6

In which two categories can focal epilepsy seizures be divided?

Answer 6

• Without consciousness

- With consciousness

Question 7

What are the risk factor for epilepsy?

Answer 7

-Family history
-Dementia
- Head injuries
. Brain infections (like meninges)
- Seizures in childhood
-Age (most common in older adults and children?

Question 8

What causes autosomal dominant self-limited epilepsy?

Answer 8

Mutations in KCNQ2 and KCNQ3.

These two are channels that form homo- and heterotetramers that are responsible for M-current (a slow inactivating K+ current). M-current constraint repetitive neuronal firing.

In general, more mutations find in KCNQ2 than KCNQ3.

Question 9

heritability pattern of genetic generalized epilepsy (GGE)?

Answer 9

-Genetic generalized epilepsy have complex inheritance pattern with multiple susceptibility alleles and/or de novo mutations.

Question 10

What are three “epilepsy genes”?

Answer 10

• Ligand gated ion channel genes
• Voltage gated ion channel genes
• Other epilepsy genes (73%)

Question 11

What can rise risk for the common epilepsies?

Answer 11

Pleiotropic genetic effects

Question 12

In which two categories can de novo mutations be divided to?

Answer 12

• Missense mutations

- Protein truncation

Question 13

What is dravet Syndrome?

Answer 13

Rare disorder (epilepsy) of infancy. Mutation in SCN1 gene (most common know epilepsy gene) which is expressed predominantly in GABA receptors.

Drugs that are used in Dravet syndrome are NA2+ blocking agents.

Seizures happens because GABAergic interneurons fail to fire robustly -> too much neuronal excitation

Question 14

NMDA mutations?

Answer 14

Related to the epilepsy genetics. Mutations in NMDA genes (GRIN1,GRIN2A, 2B,2D…)