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Outcome measures in Angelman syndrome. [PDF]
J Neurodev DisordHagenaar DA +12 more
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Epilepsy in Angelman’s Syndrome
Neuroscience and Behavioral Physiology, 2022Angelman's syndrome (AS) is accompanied by specific changes in the EEG and genetically determined epilepsy. To analyze the neurological status, changes on EEG, MRI, the course of epilepsy in patients with Angelman syndrome (observed at the Svt. uca`s Institute of Child Neurology and Epilepsy).47 patients with a genetically verified diagnosis of AS ...
M.Yu. Bobylova +4 more
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2023
Angelman syndrome (AS) is a rare disorder characterized by ataxia, ambulation difficulties, muteness, excessive laughter and seizures. Most children diagnosed with (AS) have an abnormal head computed tomography scan, an abnormal electroencephalogram, and an abnormal pneumoencephalogram.
Rohini Motwani, Hare Krishna
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Angelman syndrome (AS) is a rare disorder characterized by ataxia, ambulation difficulties, muteness, excessive laughter and seizures. Most children diagnosed with (AS) have an abnormal head computed tomography scan, an abnormal electroencephalogram, and an abnormal pneumoencephalogram.
Rohini Motwani, Hare Krishna
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Current Problems in Pediatrics, 1995
The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-
C A, Williams +6 more
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The Angelman syndrome is a neurological disorder characterized by constant features: severe mental retardation, easily provoked laughter, ataxia, absent speech, seizures. Most cases are sporadic but familial cases have been reported. About 60 to 70% of cases are due to an interstitial deletion on the maternally inherited chromosome 15 in the region q11-
C A, Williams +6 more
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The Neurologist, 2007
Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13.The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 ...
Justyna, Paprocka +5 more
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Angelman syndrome (AS) is characterized by severe mental retardation, epilepsy, absent speech, dysmorphic facial features, and a characteristic behavioral phenotype. It is caused by deficiency of gene expression from maternally derived chromosome 15q11-q13.The authors present the clinical picture of 9 children (median age, 4.9 years; range, 1 to 10 ...
Justyna, Paprocka +5 more
openaire +2 more sources
2004
Abstract If a child presents with hypotonia, myoclonic seizures, and lactic acidosis, a mitochondrial disorder should be strongly considered. However, the results of laboratory tests that often confirm the diagnosis of a mitochondrial disorder, such as muscle biopsy, mitochondrial DNA studies, and magnetic resonance imaging, were normal ...
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Abstract If a child presents with hypotonia, myoclonic seizures, and lactic acidosis, a mitochondrial disorder should be strongly considered. However, the results of laboratory tests that often confirm the diagnosis of a mitochondrial disorder, such as muscle biopsy, mitochondrial DNA studies, and magnetic resonance imaging, were normal ...
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Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1986
An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient.
S W, Eber, S, Joost, M, Gabriel
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An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient.
S W, Eber, S, Joost, M, Gabriel
openaire +1 more source