@article{558f2f30e2d24425a1ce55ff274efc65,
title = "Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder",
abstract = "Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.",
keywords = "Adolescent, Calcium-Binding Proteins, Candidate genes, Child, Child, Preschool, Chromosomes, Human, Pair 4, Comparative Genomic Hybridization, Female, Gene Deletion, Humans, Male, Membrane Proteins, Oligonucleotide Array Sequence Analysis, Real-Time Polymerase Chain Reaction, Seizures, WHS pathogenesis, Wolf-Hirschhorn Syndrome, Adolescent, Calcium-Binding Proteins, Candidate genes, Child, Child, Preschool, Chromosomes, Human, Pair 4, Comparative Genomic Hybridization, Female, Gene Deletion, Humans, Male, Membrane Proteins, Oligonucleotide Array Sequence Analysis, Real-Time Polymerase Chain Reaction, Seizures, WHS pathogenesis, Wolf-Hirschhorn Syndrome",
author = "Marcella Zollino and Chieffo, {Daniela Pia Rosaria} and Giuseppe Marangi and Battaglia, {Domenica Immacolata} and Daniela Orteschi and Concetta Cafiero and Stefania Ricciardi and Ilaria Contaldo and Domiziana Ranalli and Celeste Acquafondata and Marina Murdolo and Alessia Asaro and Mariken Ruiter and Rolph Pfundt and Katharina Steindl",
year = "2014",
doi = "10.1111/epi.12617",
language = "English",
volume = "55",
pages = "849--857",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320",
}