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Human Genetics Spring 2023 > Epilepsy > Flashcards

Epilepsy Flashcards

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1
Q

What are two types of epilepsies that present within the 0-3 month range?

A

Ohtahara syndrome

Epilepsy of Infancy with Migrating Focal Seizures

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2
Q

What are genes associated with epilepsies that present within the 0-3 month range?

A

STXPB1, KCNQ2, SCN2A

KCNT1, SCN2A

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3
Q

What are two types of epilepsies that present within the 4 months - 2 year range?

A

West syndrome

Dravet syndrome

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4
Q

What are genes associated with epilepsies that present within the 4 months - 2 year range?

A

CDKL5, STXBP1, ARX, DNM1

SCN1A

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5
Q

What is the most common gene associated with Dravet syndrome?

A

SCN1A

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6
Q

What types of seizures are associated with Dravet syndrome?

A

Prolonged febrile/afebrile sz, focal (hemiclonic), regression

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7
Q

What are two types of epilepsies that present within the 1-8 year range?

A

Lennox-Gastaut syndrome

Myoclonic-atonic epilepsy/Doose syndrome

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8
Q

What are genes associated with epilepsies that present within the 1-8 year range?

A

CDKL5, DNM1

SLC2A1, SLC6A1

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9
Q

What are is the type of epilepsies that presents within the 2-10 year range?

A

Landau-Kleffner syndrome

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10
Q

What gene is associated with seizures that present at 2-10 years?

A

GRIN2A

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11
Q

What is the phenotype of Landau-Kleffner syndrome (GRIN2A)?

A

Acquired aphasia, previously normal devt, +/- seizures

Electrical status epilepticus during slow wave sleep

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12
Q

What are examples of ion channel epilepsy genes?

A

SCN1A, SCN2A, KCNQ2, CACNA1A

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13
Q

What are examples of synaptic transmission epilepsy genes?

A

DNM1, SNAP25, STXBP1, STX1B, SYNGAP1

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14
Q

What gene is associated with GLUT1 deficiency syndrome?

A

SLC2A1

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15
Q

What is the treatment of GLUT1 deficiency?

A

ketogenic diet

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16
Q

What is the 30/10 rule in epilepsy?

A

30% of epilepsy has a genetic cause

10% of explained epilepsy has a treatment change

17
Q

What are the most common genes in childhood epilepsy?

A

SCN1A
KCNQ2
CDKL5
SCN2A
PCDH19
STXBP1
PRRT2
SLC2A1

18
Q

What are the features of SCN1A GoF variants vs Lof?

A

GoF seizures onset within first 3 months of life

Treatment includes sodium channel blockers

Human Genetics Spring 2023 (12 decks)

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