Literature DB >> 9390707

A case of Noonan syndrome with cortical dysplasia.

Y Saito1, M Sasaki, S Hanaoka, K Sugai, T Hashimoto.   

Abstract

We report the case of a 20-year-old woman with Noonan syndrome. She had severe mental retardation and intractable epilepsy. Magnetic resonance imaging revealed dilated perivascular spaces and a dysplastic lesion in the left temporal lobe, which is thought to have caused her neurologic symptoms. These findings suggest that neuronal in addition to somatic migration can be impaired in Noonan syndrome.

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Year:  1997        PMID: 9390707     DOI: 10.1016/s0887-8994(97)00094-5

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  4 in total

1.  Quantification of perivascular spaces at 7T: A potential MRI biomarker for epilepsy.

Authors:  Rebecca Emily Feldman; John Watson Rutland; Madeline Cara Fields; Lara Vanessa Marcuse; Puneet S Pawha; Bradley Neil Delman; Priti Balchandani
Journal:  Seizure       Date:  2017-11-20       Impact factor: 3.184

2.  Control of CNS cell-fate decisions by SHP-2 and its dysregulation in Noonan syndrome.

Authors:  Andrée S Gauthier; Olivia Furstoss; Toshiyuki Araki; Richard Chan; Benjamin G Neel; David R Kaplan; Freda D Miller
Journal:  Neuron       Date:  2007-04-19       Impact factor: 17.173

Review 3.  The impact of RASopathy-associated mutations on CNS development in mice and humans.

Authors:  Minkyung Kang; Yong-Seok Lee
Journal:  Mol Brain       Date:  2019-11-21       Impact factor: 4.041

4.  Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Authors:  Domenica I Battaglia; Maria Luigia Gambardella; Stefania Veltri; Ilaria Contaldo; Giovanni Chillemi; Chiara Veredice; Michela Quintiliani; Chiara Leoni; Roberta Onesimo; Tommaso Verdolotti; Francesca Clementina Radio; Diego Martinelli; Marina Trivisano; Nicola Specchio; Charlotte Dravet; Marco Tartaglia; Giuseppe Zampino
Journal:  Genes (Basel)       Date:  2021-08-26       Impact factor: 4.096

  4 in total

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