Cortical myoclonus in Angelman syndrome
R Guerrini, P Bonanni, TM de Lorey…�- Annals of Neurology�…, 1996 - Wiley Online Library
Angelman syndrome (AS) results from lack of genetic contribution from maternal
chromosome 15q11–13. This region encompasses three GABAA receptor subunit genes�…
chromosome 15q11–13. This region encompasses three GABAA receptor subunit genes�…
Seizure and EEG patterns in Angelman's syndrome
F Viani, A Romeo, M Viri…�- Journal of Child�…, 1995 - journals.sagepub.com
We studied the seizure and polygraphic patterns of 18 patients with Angelman's syndrome.
All patients showed movement problems. Eleven patients were also reported to have long�…
All patients showed movement problems. Eleven patients were also reported to have long�…
Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities
T Sugimoto, A Yasuhara, T Ohta, N Nishida…�- …, 1992 - Wiley Online Library
Neurologic findings in 3 siblings with Angelman syndrome (AS) with apparently normal
karyotype but DNA deletion of 15q11‐q12 deriving from their mother are described�…
karyotype but DNA deletion of 15q11‐q12 deriving from their mother are described�…
Angelman syndrome: correlations between epilepsy phenotypes and genotypes
BA Minassian, TM Delorey, RW Olsen…�- Annals of�…, 1998 - Wiley Online Library
We compared epilepsy phenotypes with genotypes of Angelman syndrome (AS), including
chromosome 15q11‐13 deletions (class I), uniparental disomy (class II), methylation�…
chromosome 15q11‐13 deletions (class I), uniparental disomy (class II), methylation�…
Angelman's syndrome: clinical and electroencephalographic findings
DI Rubin, MC Patterson, BF Westmoreland…�- Electroencephalography�…, 1997 - Elsevier
Angelman's syndrome is a rare genetic disorder characterized by developmental delay,
craniofacial abnormalities, ataxia, paroxysmal laughter, and seizures. The diagnosis is�…
craniofacial abnormalities, ataxia, paroxysmal laughter, and seizures. The diagnosis is�…
Levodopa responsive Parkinsonism in adults with Angelman Syndrome
M Harbord�- Journal of Clinical Neuroscience, 2001 - Elsevier
Two intellectually disabled adults with Angelman Syndrome are reported who developed
intermittent episodes of a severe resting tremor, cogwheel rigidity and bradykinesia in their�…
intermittent episodes of a severe resting tremor, cogwheel rigidity and bradykinesia in their�…
Angelman syndrome in adulthood
LAEM Laan, AT den Boer…�- American journal of�…, 1996 - Wiley Online Library
We studied the clinical and EEG‐findings in 28 adult patients (aged 20–53 years) with
Angelman syndrome (AS). Twenty‐three showed a maternal chromosome 15q11–13�…
Angelman syndrome (AS). Twenty‐three showed a maternal chromosome 15q11–13�…
[HTML][HTML] Epilepsy in patients with Angelman syndrome
A Fiumara, A Pittal�, M Cocuzza, G Sorge�- Italian journal of pediatrics, 2010 - Springer
Angelman syndrome (AS) is a neuro-behavioural, genetically determined condition,
characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts�…
characterized by ataxic jerky movements, happy sociable disposition and unprovoked bouts�…
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms
R Guerrini, R Carrozzo, R Rinaldi, P Bonanni�- Pediatric Drugs, 2003 - Springer
It is estimated that Angelman syndrome (AS) accounts for up to 6% of all children presenting
with severe mental retardation and epilepsy. The main clinical features of AS may not be�…
with severe mental retardation and epilepsy. The main clinical features of AS may not be�…
Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13
Background Angelman syndrome (AS) is a neurogenetic disorder characterized by severe
mental retardation, speech disorder, stereotyped jerky movements, and a peculiar�…
mental retardation, speech disorder, stereotyped jerky movements, and a peculiar�…
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