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  • Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

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Genotype-phenotype correlations
Original article
Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

Authors

  • Elena Parrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital—University of Florence, Florence, Italy PubMed articlesGoogle scholar articles
  • Davide Mei Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital—University of Florence, Florence, Italy PubMed articlesGoogle scholar articles
  • Maria Antonietta Pisanti Medical Genetic Unit, AORN Cardarelli, Naples, Italy PubMed articlesGoogle scholar articles
  • Serena Catarzi Molecular and Cell Biology Laboratory, Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy PubMed articlesGoogle scholar articles
  • Daniela Pucatti Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital—University of Florence, Florence, Italy PubMed articlesGoogle scholar articles
  • Claudia Bianchini Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital—University of Florence, Florence, Italy PubMed articlesGoogle scholar articles
  • Mario Mascalchi Quantitative and Functional Neuroradiology Research Program, Meyer Children Hospital and Careggi General Hospital, Florence, Italy PubMed articlesGoogle scholar articles
  • Enrico Bertini Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Amelia Morrone Molecular and Cell Biology Laboratory, Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy PubMed articlesGoogle scholar articles
  • Maria Luigia Cavaliere Medical Genetic Unit, AORN Cardarelli, Naples, Italy PubMed articlesGoogle scholar articles
  • Renzo Guerrini Pediatric Neurology and Neurogenetics Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital—University of Florence, Florence, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Renzo Guerrini, Neurology and Neurogenetics Unit, Children's Hospital A. Meyer-University of Florence, Viale Pieraccini 24, Firenze 50139, Italy; renzo.guerrini{at}meyer.it
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Citation

Parrini E, Mei D, Pisanti MA, et al
Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects
Journal of Medical Genetics 2015;52:405-412.

Publication history

  • Received December 17, 2014
  • Revised February 17, 2015
  • Accepted February 18, 2015
  • First published March 9, 2015.
Online issue publication 
March 22, 2017

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