Literature DB >> 2269397

Angelman's syndrome in the first year of life.

A Van Lierde1, M G Atza, D Giardino, F Viani.   

Abstract

Angelman syndrome usually has been considered to be rare and sporadic. However, recent reports suggest a sibling recurrence risk of just under 25 per cent, so early diagnosis is very important. The authors report Angelman syndrome in a child of seven months. The early features of this syndrome (jerky movements, EEG characteristics, chromosomal abnormalities in half the cases) should make it possible to diagnose or suspect the syndrome in the first year of life.

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Year:  1990        PMID: 2269397     DOI: 10.1111/j.1469-8749.1990.tb08125.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  5 in total

1.  Angelman's syndrome: a neuropathological study.

Authors:  T Kyriakides; L A Hallam; A Hockey; P Silberstein; B A Kakulas
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

2.  Isolated neurodevelopmental delay in childhood: clinicoradiological correlation in 170 patients.

Authors:  P Demaerel; D P Kingsley; B E Kendall
Journal:  Pediatr Radiol       Date:  1993

Review 3.  Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Authors:  A Smith; C Wiles; E Haan; J McGill; G Wallace; J Dixon; R Selby; A Colley; R Marks; R J Trent
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

4.  Parental view of epilepsy in Angelman syndrome: a questionnaire study.

Authors:  M Ruggieri; M A McShane
Journal:  Arch Dis Child       Date:  1998-11       Impact factor: 3.791

Review 5.  Epilepsy in Angelman syndrome: A scoping review.

Authors:  Debopam Samanta
Journal:  Brain Dev       Date:  2020-09-04       Impact factor: 1.961

  5 in total

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