TY  - GEN
AU  - Parrini,Elena
AU  - Mei,Davide
AU  - Pisanti,Maria Antonietta
AU  - Catarzi,Serena
AU  - Pucatti,Daniela
AU  - Bianchini,Claudia
AU  - Mascalchi,Mario
AU  - Bertini,Enrico
AU  - Morrone,Amelia
AU  - Cavaliere,Maria Luigia
AU  - Guerrini,Renzo
TI  - 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
SN  - 1468-6244
PY  - 2016///0224
KW  - Base Sequence
KW  - Bone and Bones
KW  - diagnostic imaging
KW  - Brain
KW  - pathology
KW  - Computational Biology
KW  - DNA Mutational Analysis
KW  - Epilepsy
KW  - genetics
KW  - Exons
KW  - Female
KW  - Filamins
KW  - chemistry
KW  - Genes, X-Linked
KW  - Genetic Association Studies
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Lymphocytes
KW  - metabolism
KW  - Magnetic Resonance Imaging
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Mutation, Missense
KW  - Nonsense Mediated mRNA Decay
KW  - Osteochondrodysplasias
KW  - diagnosis
KW  - Pedigree
KW  - Periventricular Nodular Heterotopia
KW  - RNA Splicing
KW  - Radiography
KW  - Sequence Alignment
KW  - Syndrome
KW  - X Chromosome Inactivation
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2014-102959
ER  -