Parrini, Elena <br/><br/>
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.  [electronic resource] 

 -  Journal of medical genetics  Jun 2015 
 - 405-12 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2014-102959  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Bone and Bones--diagnostic imaging<br/>Brain--pathology<br/>Computational Biology<br/>DNA Mutational Analysis<br/>Epilepsy--genetics<br/>Exons<br/>Female<br/>Filamins--chemistry<br/>Genes, X-Linked<br/>Genetic Association Studies<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Lymphocytes--metabolism<br/>Magnetic Resonance Imaging<br/>Molecular Sequence Data<br/>Mutation<br/>Mutation, Missense<br/>Nonsense Mediated mRNA Decay<br/>Osteochondrodysplasias--diagnosis<br/>Pedigree<br/>Periventricular Nodular Heterotopia--diagnosis<br/>RNA Splicing<br/>Radiography<br/>Sequence Alignment<br/>Syndrome<br/>X Chromosome Inactivation