Could Juvenile Myoclonic Epilepsy be a psychological disorder?

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Could Juvenile Myoclonic Epilepsy be a psychological disorder?

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Brain Advance Access originally published online on June 16, 2004
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Articles by Taylor, I.
Articles by Scheffer, I. E.

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Articles by Taylor, I.
Articles by Scheffer, I. E.

Brain, Vol. 127, No. 8, 1878-1886, August 2004
© 2004 Guarantors of Brain
doi: 10.1093/brain/awh211

Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap?
Isabella Taylor1, Carla Marini1, Michael R. Johnson4, Samantha Turner1, Samuel F. Berkovic1,2 and Ingrid E. Scheffer1,2,3
1 Epilepsy Research Centre, Austin Health, The University of Melbourne, 2 Royal Children's Hospital and 3 Department of Neurosciences, Monash Medical Centre, Melbourne, Victoria, Australia and 4 Division of Neurosciences and Psychological Medicine, Imperial College, London, UK

Correspondence to: A/Professor Ingrid E. Scheffer, Epilepsy Research Centre, Level 1, Neurosciences Building, Austin Health, Banksia Street, West Heidelberg, Victoria, 3081 Australia E-mail: [e-mail]

Although epileptic photosensitivity is well known, its genetics and syndromic associations are incompletely understood. Seizures triggered by photic stimulation are usually a manifestation of the idiopathic generalized epilepsies, especially juvenile myoclonic epilepsy (JME), or of the occipital epilepsies. Idiopathic photosensitive occipital epilepsy (IPOE) is a focal epilepsy with colourful elementary visual auras, often with conscious tonic head and eye version; myoclonus is not a feature. All seizures are induced by photic stimuli. We describe four families with phenotypic overlap between JME and IPOE. Families were identified if two or more affected individuals had visual auras and electro-clinical features of an idiopathic epilepsy. Family members underwent detailed electro-clinical assessment. In addition, 40 unrelated JME probands were investigated systematically for unrecognized features of IPOE (visual aura and conscious head version). There were 12 affected individuals in four families; 11 were female. Clinical onset was at 8–21 years of age. Of 10 patients with visual auras, six had conscious head version and five also experienced myoclonic jerks; eight had non-photic induced tonic–clonic seizures (TCS). Of the remaining individuals, one had myoclonic jerks and occipital spikes; the other had TCS without visual aura or myoclonic jerks. Of 10 patients with EEG studies, eight had generalized spike and wave (GSW) and six had occipital spikes. All had photosensitivity with GSW and four had additional occipital spikes. Of the 40 JME probands, six had visual aura and/or conscious head version; five of these were photosensitive. There is overlap between the clusters of clinical features used to diagnose IPOE and JME. Half of the affected individuals in our families with visual aura had myoclonic jerks; the former is characteristic of IPOE and the latter of JME. Importantly, visual aura is not regarded as part of JME, nor myoclonus part of IPOE, but our data emphasize that these symptoms may occur in both disorders. Moreover, two-thirds of individuals with visual aura had spontaneous TCS; the latter feature is not described in IPOE. Additionally, we demonstrate that visual aura and conscious head version are under-recognized features of JME, particularly among photosensitive patients. These findings could be explained by shared genetic determinants underlying IPOE and JME. Understanding the genetic basis of these disorders must account for the striking female predominance, the variable phenotypes associated with photosensitivity and the overlap of clinical features classically regarded as distinguishing focal and generalized syndromes.






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Answer 2

Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic generalized epilepsy affecting up to 10% of the population. This disorder typically first manifests itself between the ages of 12 and 18 with myoclonus occurring early in the morning. Most patients also have tonic-clonic seizures and many also have absence seizures. Linkage studies have demonstrated at least 6 loci for JME, 4 with known causative genes. Most of these genes are ion channels with the one non-ion channel gene having been shown to affect ion channel currents.

Signs of JME are myoclonus occurring early in the morning. Interestingly, this rarely results in patients falling, but rather dropping objects. Attacks of myoclonia is more common in the arms than the legs. Other seizure types such as generalized tonic-clonic and absence seizures can also occur.