To save content items to your account,
please confirm that you agree to abide by our usage policies.
If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account.
Find out more about saving content to .
To save content items to your Kindle, first ensure firstname.lastname@example.org
is added to your Approved Personal Document E-mail List under your Personal Document Settings
on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part
of your Kindle email address below.
Find out more about saving to your Kindle.
Note you can select to save to either the @free.kindle.com or @kindle.com variations.
‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi.
‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.
Genetic studies of the epilepsies involve two main aspects: detailed gathering of data and data analysis. The contribution of genetics to nosology and classification of the epilepsies should be carefully considered. If genetic criteria were prominent, epilepsy syndromes having heterogeneous clinical expressions would be classified within the same category and homogeneous syndromes caused by different genetic mechanisms would fall in different subcategories. The idiopathic generalized epilepsies constitute a group of syndromes characterized by absence seizures, myoclonus, and generalized tonic-clonic seizures. Chromosomal abnormalities are relatively common genetically determined conditions that increase the risk of epilepsy. Ethical and societal considerations are important in establishing guidelines for both genetic counseling and genetic research in the epilepsies. Standard karyotype and high-resolution chromosome analysis, fluorescent in situ hybridization (FISH), molecular karyotyping with array comparative genomic hybridization, multiple ligation-probe amplification (MLPA) and single-nucleotide polymorphism arrays (SNPs) are the standard cytogenetic and molecular techniques for diagnosis.
Benign myoclonus of early infancy is a paroxysmal phenomenon in neurologically healthy infants with onset in the first year of life and a benign self-limited course. It was first described by Lombroso and Fejerman (1977) with the presentation of 16 cases based mainly on anamnestic features. The first polygraphic study on BM was reported by Dravet et al. (1986), who decided to call the phenomenon benign non-epileptic infantile spasms because of the close relationship with the clinical picture of epileptic spasms of West syndrome. We illustrated the clinical and neurophysiological study of 5 patients with BM (Pachatz et al., 1999) and showed that the so-called myoclonus is not a myoclonus in neurophysiological terms, and that it is also clearly distinguishable from epileptic spasms at electromyography and even from a clinical point of view. Since that report, we obtained additional clinical and neurophysiological data in another three children, confirming that BM in its most typical form is characterized by a brief shudder-type axial motor manifestation, which can superimpose a series of other paroxysmal motor phenomena.
Clinical and video-polygraphic findings from a recent series
Between the years 1994 and 1999 we studied eight children, three girls and five boys, at the Division of Neurology, Bambino Gesù Children's Hospital, Rome, Italy, using video-EEG recording in all eight patients and polygraphic recording in four of eight cases. Scalp electrodes were placed according to the International 10–20 System. Polygraphic recordings included surface electromyographic (EMG) recording from the two deltoid muscles, channels for respirogram and electrocardiogram.
In all patients we studied, family or personal history was negative for neurological pathologies.
Email your librarian or administrator to recommend adding this to your organisation's collection.