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?
This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6.
This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6. (
This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6. (
This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6. (
This child has juvenile myoclonic epilepsy. This is associated with an autosomal dominant inheritance, and an abnormality on chromosome 6. (
1. Levin, K.H., and Luders, H.O. (Eds.) (2000). Comprehensive Clinical Neurophysiology. W.B. Saunders Company, Philadelphia. (ISBN:0721676561)
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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)
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