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Epilepsy > Genetic Epilepsies > Flashcards

Genetic Epilepsies Flashcards

1
Q

Autosomal dominant nocturnal frontal lobe epilepsy?

A

Mutations in the nicotinic acetylcholine receptor

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2
Q

Sodium chloride channel mutations associated epilepsy syndromes

A

Dravet syndrome, GEFS+

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3
Q

What gene is involved in Familial lateral temporal lobe epilepsy

A

Leucine-rich glioma inactivated 1 gene, LGI1 gene

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4
Q

GABA receptor associated syndromes?

A

JME, Absence epilepsy, GEFS+ idiopathic generalize epilepsy, Infantile spasms, Lennox-Gastaut

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5
Q

What are copy number variants?

A

Variations of DNA sequences at least 1 Kb in length

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6
Q

Can copy number variants be detected by karotyping?

A

No

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7
Q

What type of epilepsy have copy number variants been associated with?

A

Generalize epilepsy and intellectual disability

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8
Q

What is the average length of copy number variants?

A

250 mb

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9
Q

What genes are associated with epilepsy and hemiplegia migraine?

A

CACNA1A, ATP1A2, and SCN1A

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10
Q

Copy number variants can represent what?

A

Monogenic disease or act as risk alleles

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11
Q

Copy number variants that cause disease can be found in unaffected family members?

A

Yes

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12
Q

Can copy number variants be found with karotyping?

A

No

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13
Q

What subunits of the GABA-A receptor have been associated with epilepsy?

A

Genes involving the subunits GABR-A1, -B2, -B3, -G2, -D

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14
Q

GABA-A receptor subunit types have been associated with what milder generalized epilepsy syndromes?

A

JME, Absence, IGE with tonic clinic seizures.

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15
Q

What mildly severe phenotypes have been associated with GABA-A mutations?

A

MAE, mild epileptic encephalopathy

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16
Q

What severe phenotypes have been associated with GABA-A mutations?

A

Dravet syndrome, epileptic encephalopthies

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17
Q

What are the predominant EEG findings in patients with GABA-A mutations?

A

Generalized spike-wave and generalized poly spike-wave, generalized photoparoxysmal response, focal spikes bilaterally frontally and posteriorally

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18
Q

What seizures semiologies are associated with GABA-RA1 mutations?

A

Tonic clinic and myoclonic are majority but also absence, atonic, tonic, myoclonic-atonic, and status epilepticus

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19
Q

What does the EEG background look like in Angelman syndrome look like?

A

Resembles hypsarrhythmia but does not show fragmentation during sleep.

20
Q

What gene mutations would be Associated with brief episodes of thrashing that occur in clusters during sleep?

A

Genes encoding the nicotinic acetylcholine receptor

21
Q

What gene is responsible for familial lateral temporal lobe epilepsy with auditory features?

A

Leucine-rich glioma inactivated 1 (LGI1) gene

22
Q

Benign familial neonatal epilepsy is associated with mutations in what genes?

A

KCNQ2 and KCNQ3 potassium channel genes.

23
Q

What is the testing strategy for possible genetic epilepsies?

A

Detailed clinical assessment complemented by analysis of the gene single-nucleotide polymorphisms and copy number variants.

24
Q

In Dravet syndrome what is the pick up of genetic testing?

A

80% will have a point mutation and 12% will harbor copy number variants (deletions)

25
Q

What does the term GEFS+ mean?

A

Genetic epilepsy with febrile seizures plus

26
Q

In GEFS+ associated genes in family pedigrees?

A

SCN1A, SCN1B, SCN9A and GABRG2

27
Q

What is the inheritance pattern in patients with Sturge Weber

A

Sporadic, random mutation in theGNAQ gene

28
Q

What is the percentage of Angelman syndrome children have seizures?

A

70-80%

29
Q

What is the percentage of children with trisomy 21 have seizures in childhood?

A

Less than 5%

30
Q

What is the percentage of children with DiGeorge syndrome have seizures?

A

21%

31
Q

What is the percentage of children with fragile X syndrome?

A

15-20%

32
Q

What is the only FDA approved indication for VGB in adults?

A

Refractory focal dyscognitive seizures

33
Q

What is the reason for altering dosing of LTG when used with VPA?

A

VPA decreases the clearence of LTG

34
Q

What is the most common seizure and social outcome for children with Dravet?

A

Intractable seizures, but with decreased seizures over time, and dependence for some or all activity of daily living

35
Q

Is benign epilepsy with centrotemporal spikes considered to be a genetic etiology?

A

Yes

36
Q

What is the only glucose transporter gene related with epilepsy?

A

SLC2A1 gene

37
Q

What other clinical presentations can be seen with SLC2A1 mutations?

A

Paroxysmal kinesigenic dyskinesia, alternating hemiplegia of childhood.

38
Q

What other seizure types are associated with mutations in the SLC2A1 gene?

A

Atypical absence, absence, drops, atonic, and myoclonic

39
Q

JME is associated with mutations in what gene?

A

GABA(A)

40
Q

What is the most common genetic mutation found in migrating partial epilepsy of infancy?

A

KCNT1

41
Q

What genes are associated with migrating partial seizures of infancy?

A

PLCB1, TBC1D24, SCN1A. SCN2A, SLC25A22, and KCNT1

42
Q

What gene is involved in familial focal epilepsy with variable focu?

A

DEPDC5

43
Q

What is a gene involved in inherited focal epilepsies?

A

DEPDC5

44
Q

What gene is involved with developmental delay, epilepsy, and neonatal diabetes?

A

KCNJ11

45
Q

What are the range of epilepsy syndromes associated with DEPDC5?

A

Focal epilepsy with variable focus, autosomal dominant nocturnal frontal lobe epilepsy, facial temporal lobe epilepsy and focal cortical dysphasia

Epilepsy (17 decks)

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