Literature DB >> 21596701

Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described.

Majid Alfadhel1, Siu Li Yong, Yolanda Lillquist, Sylvie Langlois.   

Abstract

The authors present 2 girls with progressive encephalopathy, hypsarrhythmia, and optic atrophy syndrome. They describe a novel finding, precocious puberty, a feature not previously reported in this syndrome. The authors also present their clinical features and the results of investigations, including radiological findings, and compare the patients of this report to previously reported cases.

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Year:  2011        PMID: 21596701     DOI: 10.1177/0883073810396582

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  5 in total

Review 1.  De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

Authors:  Sylvie Langlois; Maja Tarailo-Graovac; Bryan Sayson; Britt Drögemöller; Anne Swenerton; Colin Jd Ross; Wyeth W Wasserman; Clara Dm van Karnebeek
Journal:  Eur J Hum Genet       Date:  2015-10-21       Impact factor: 4.246

Review 2.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

3.  PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Authors:  Pawel Gawlinski; Renata Posmyk; Tomasz Gambin; Danuta Sielicka; Monika Chorazy; Beata Nowakowska; Shalini N Jhangiani; Donna M Muzny; Monika Bekiesinska-Figatowska; Jerzy Bal; Eric Boerwinkle; Richard A Gibbs; James R Lupski; Wojciech Wiszniewski
Journal:  Pediatr Neurol       Date:  2016-04-09       Impact factor: 3.372

4.  Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Authors:  Lia Boyle; Lu Rao; Simranpreet Kaur; Xiao Fan; Caroline Mebane; Laura Hamm; Andrew Thornton; Jared T Ahrendsen; Matthew P Anderson; John Christodoulou; Arne Gennerich; Yufeng Shen; Wendy K Chung
Journal:  HGG Adv       Date:  2021-01-30

5.  Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.

Authors:  Sarah Winter; Adélaïde Durand; Raja Brauner
Journal:  Front Pediatr       Date:  2019-02-14       Impact factor: 3.418

  5 in total

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