An analysis of epilepsy with chromosomal abnormalities

Epileptic spasms and early-onset photosensitive epilepsy in Patau syndrome: An EEG study

“…Although no evidence of a contribution of photosensitivity to the outcome worsening can be drawn from present data, worse seizure control was described in BMEI cases when photosensitivity was present [16], possibly due to stimulating behaviours leading to self-induced seizures [17]. When taken together with previous reports [9] our cases highlight that epilepsy in Patau syndrome is not as mild as previously thought [5,7]. Further followup data would be extremely informative in this regard.…”

“…We also wish to highlight a worse prognosis in terms of seizure control than classically reported [5,7]. In our series, we have evidence of difficult seizure control in patient 2, who needed multi-therapy, and patient 7 who, at a clinical follow-up at 2 years of age, was experiencing around 20 episodes of myoclonic seizures/day despite being on high doses of sodium valproate.…”

“…When information is available, early onset (either during the neonatal period or in infancy) [5] and a generally good seizure control with antiepileptic drugs [5,6] seem to recur as common features. Occasionally, delayed onset of seizures in childhood [7] and adolescence [8]) has also been observed.…”

A genetic diagnostic approach to infantile epileptic encephalopathies

“…Many different and novel deletions/duplications are possible. 31,32 As a general rule, patients with chromosomal abnormalities display phenotypes such as major organ malformations, dysmorphic features, abnormal growth patterns, or a family history of multiple miscarriages, learning disability, or malformations. 33 The detection rate of array comparative genomic hybridization (aCGH) or single nucleotide polymorphism (SNP) arrays in early onset epileptic encephalopathies remains to be established.…”

Epilepsy genetics: The ongoing revolution

“…The first one is the identification of the genetic or environmental factors that are able to modify the epileptic phenotypes including age at onset, seizure type and frequency, and resistance to treatment in clinically variable genetic epilepsies. The second is the identification of somatic mutations that could account for an important proportion of patients with epilepsy [105,234,235]. Somatic mutations can occur at any stage of the development of the individual and could, in theory, be limited to the brain, making their detection almost impossible during the patient's life.…”