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Pediatric Epilepsy Syndromes 08

Topic: Pediatric

Created on Thursday, October 4 2007 by jdmiles

Last modified on Thursday, October 4 2007.

A 15 year old girl presents after having a generalized tonic-clonic seizure.  She has noticed that, when she brushes her teeth or combs her hair in the morning, she occasionally experiences a brief, involuntary jerk in her upper extremities.  Past medical history is otherwise unremarkable. Her father was also diagnosed with epilepsy as a teenager, and remains on antiepileptic medication. Exam is normal. You obtain an EEG, which reveals occasional generalized bilateral polyspikes and spike wave complexes at 4Hz.

Which of the following statements about the genetics of this syndrome is true?


 
        A) This syndrome is associated with an abnormality on chromosome 6
 
        B) This syndrome is associated with an abnormality on chromosome 20
 
        C) This syndrome is associated with an abnormality on chromosome 16
 
        D) This syndrome is associated with an abnormality on the X chromosome.
 
        E) This syndrome is associated with an abnormality on chromosome 9
 

 


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This question was created on October 04, 2007 by jdmiles.
This question was last modified on October 04, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) This syndrome is associated with an abnormality on chromosome 6

This answer is correct.


This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6.

  (See References)

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B) This syndrome is associated with an abnormality on chromosome 20

This answer is incorrect.


This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6.  (See References)

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C) This syndrome is associated with an abnormality on chromosome 16

This answer is incorrect.


This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6.  (See References)

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D) This syndrome is associated with an abnormality on the X chromosome.

This answer is incorrect.


This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6.  (See References)

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E) This syndrome is associated with an abnormality on chromosome 9

This answer is incorrect.


This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6.  (See References)

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References:

1. Levin, K.H., and Luders, H.O. (Eds.) (2000). Comprehensive Clinical Neurophysiology. W.B. Saunders Company, Philadelphia. (ISBN:0721676561) Advertising:
2. Trescher, W.H., and Lesser, R.P. (2004). The epilepsies. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, Fourth Edition. Butterworth Heinemann, Philadelphia, pp. 1953-1992. (ISBN:0750674695) Advertising:
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pediatric
Pediatric Epilepsy Syndromes 08
Question ID: 100407142
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 10/04/2007
Modified: 10/04/2007
Estimated Permutations: 3588000

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