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Flashcards in Seizures And Epilepsy Deck (20)
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1
Q

What is a dialeptic seizure?

A

One in which the semiology is impaired awareness of, interaction with or memory of ongoing events (consciousness)

2
Q

What are the two disease phenotypes caused by hypothalamic hamartomas?

A

Central precocious puberty (CPP)

Epilepsy and neurobehavioral symptoms

3
Q

How does central precocious puberty present in hypothalamic hamartoma disease?

A

As early as 2 or 3 years old, without epilepsy or other neurological Sx

4
Q

Where is the hamartoma found in central precocious puberty?

A

Anterior hypothalamus - tuber cinereum/pituitary stalk

5
Q

What does an anterior hypothalamic hamartoma cause?

A

Central precocious puberty

6
Q

What is the cause of central precocious puberty or gelastic seizures?

A

Hypothalamic hamartoma

7
Q

Where is the hamartoma found in gelastic seizures/neurobehavioral symptoms?

A

More posteriorly, near mammillary bodies

8
Q

What is a dacrystic seizure?

A

One that sounds like crying (like gelastic)

9
Q

What are the Ramsay Hunt syndrome diseases?

A

Progressive Myoclonic epilepsy and ataxia

10
Q

What is Unverricht Lundberg disease?

A

Baltic/Mediterranean myoclonus

Early onset AR spinocerebellar degeneration

11
Q

What are the 4 main diseases causing Ramsay Hunt syndrome?

A

Unverricht-Lundborg disease
Lafora body disease
Neuronal ceroid lipofuscinosis
Sialidosis

12
Q

What mutation causes Unverricht-Lundborg disease?

A

EPM1A

13
Q

What is Lafora body disease?

A

Adolescent onset AR severe epilepsy, dementia and mild myoclonus

14
Q

What is the mutation causing Lafora body disease and what are the pathognomic findings?

A

EPM2A mutation

Periodic acid Schiff-positive inclusions in biopsy

15
Q

Sx of neuronal ceroid lipofuscinosis?

A

Epilepsy
Myoclonus
Visual failure
Ataxia

16
Q

What is deficient in Sialidosis?

A

Sialidase - neuraminidase

17
Q

What is caused by neuraminidase deficiency?

A

Sialidosis

18
Q

Sx of Sialidosis?

A
Epilepsy
Myoclonus
Visual failure
Cherry red maculae
Ataxia
19
Q

What mutation causes Sialidosis?

A

NEU1

20
Q

What disease is caused by NEU1 mutation?

A

Sialidosis