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Epilepsy in patients with Angelman syndrome.

Fiumara A, PittalĂ  A, Cocuzza M, Sorge G - Ital J Pediatr (2010)

Bottom Line: The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time.Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family.Some drugs seems to act better than others, Valproate, ethosuximide and clonazepam giving the best results.

View Article: PubMed Central - HTML - PubMed

Affiliation: Pediatric Neurology, Regional Referral Centre for Inborn Errors Metabolism, University of Catania, Italy. agafiu@virgilio.it

ABSTRACT
Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a variety of genetic mechanisms involving the 15q 11-13 chromosome. About 70% of cases are due to a "de novo" interstitial deletion in the long arm region, arising on the maternally inherited chromosome. The diagnosis is confirmed by methylation test or by mutation analysis of UBE3A gene. The deletion phenotype is generally linked to a more severe clinical picture in that 95% of patients manifest more severe seizures, severe mental and motor retardation, dysmorphic features and microcephaly.The pathogenesis of epilepsy in AS is still not fully understood. The presence in the commonly deleted region of a cluster of genes coding for 3 subunits of the GABAa receptor complex has lead to the hypothesis that GABA neurotransmission is involved. Epilepsy, often severe and hard to control, is present in 85% of patients within the first three years of life, although less than 25% develop seizures during the first year. It was observed that febrile seizures often precede the diagnosis. Most frequent types are atypical absences, generalized tonic-clonic, atonic or myoclonic seizures, with multiple seizure types occurring in 50% of deleted patients. There is still some doubt about the association with West syndrome. The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time. Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family. Some drugs seems to act better than others, Valproate, ethosuximide and clonazepam giving the best results.

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EEG at different ages. (a) Generalized burst of spike and spike waves with high amplitude, prevalent in the anterior regions, (b) Very slow background activity mixed with multifocal spikes.
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Figure 2: EEG at different ages. (a) Generalized burst of spike and spike waves with high amplitude, prevalent in the anterior regions, (b) Very slow background activity mixed with multifocal spikes.

Mentions: Our series of patients with AS showed a seizures type distribution similar to that reported in Literature. All patients had febrile seizures before the onset of a frank epilepsy. Myoclonic seizures were the most frequent in infancy, followed by atypical absences and tonic clonic seizures. None had convulsive SE. Valproate and topiramate were preferentially used anticonvulsants but in the majority of cases epilepsy was hardly controlled. The critical EEG showed parossistic 1-1.5 c/s discharges of spike-waves complexes. The background activity was constituted by a persistent generalized 4-6 hz activity arising from the temporo-parietal regions (Fig. 2a). With time the EEG pattern changed showing a very slow background activity mixed with multifocal spikes (Fig. 2b).


Epilepsy in patients with Angelman syndrome.

Fiumara A, PittalĂ  A, Cocuzza M, Sorge G - Ital J Pediatr (2010)

EEG at different ages. (a) Generalized burst of spike and spike waves with high amplitude, prevalent in the anterior regions, (b) Very slow background activity mixed with multifocal spikes.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2865483&req=5

Figure 2: EEG at different ages. (a) Generalized burst of spike and spike waves with high amplitude, prevalent in the anterior regions, (b) Very slow background activity mixed with multifocal spikes.
Mentions: Our series of patients with AS showed a seizures type distribution similar to that reported in Literature. All patients had febrile seizures before the onset of a frank epilepsy. Myoclonic seizures were the most frequent in infancy, followed by atypical absences and tonic clonic seizures. None had convulsive SE. Valproate and topiramate were preferentially used anticonvulsants but in the majority of cases epilepsy was hardly controlled. The critical EEG showed parossistic 1-1.5 c/s discharges of spike-waves complexes. The background activity was constituted by a persistent generalized 4-6 hz activity arising from the temporo-parietal regions (Fig. 2a). With time the EEG pattern changed showing a very slow background activity mixed with multifocal spikes (Fig. 2b).

Bottom Line: The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time.Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family.Some drugs seems to act better than others, Valproate, ethosuximide and clonazepam giving the best results.

View Article: PubMed Central - HTML - PubMed

Affiliation: Pediatric Neurology, Regional Referral Centre for Inborn Errors Metabolism, University of Catania, Italy. agafiu@virgilio.it

ABSTRACT
Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition, characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts of laughter in association with seizures, learning disabilities and language impairment. Most of the cases are hardly diagnosed during infancy as jerky movements, the cardinal sign, appear later in childhood. AS is caused by a variety of genetic mechanisms involving the 15q 11-13 chromosome. About 70% of cases are due to a "de novo" interstitial deletion in the long arm region, arising on the maternally inherited chromosome. The diagnosis is confirmed by methylation test or by mutation analysis of UBE3A gene. The deletion phenotype is generally linked to a more severe clinical picture in that 95% of patients manifest more severe seizures, severe mental and motor retardation, dysmorphic features and microcephaly.The pathogenesis of epilepsy in AS is still not fully understood. The presence in the commonly deleted region of a cluster of genes coding for 3 subunits of the GABAa receptor complex has lead to the hypothesis that GABA neurotransmission is involved. Epilepsy, often severe and hard to control, is present in 85% of patients within the first three years of life, although less than 25% develop seizures during the first year. It was observed that febrile seizures often precede the diagnosis. Most frequent types are atypical absences, generalized tonic-clonic, atonic or myoclonic seizures, with multiple seizure types occurring in 50% of deleted patients. There is still some doubt about the association with West syndrome. The EEG abnormalities are not themselves pathognomonic of AS and both background activity and epileptic discharges vary even in the same patient with time. Nevertheless, the existence of some suggestive patterns should facilitate the early diagnosis allowing the correct genetic counselling for the family. Some drugs seems to act better than others, Valproate, ethosuximide and clonazepam giving the best results.

Show MeSH
Related in: MedlinePlus