ADGRV1 is implicated in myoclonic epilepsy

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Auditory cortex interneuron development requires cadherins operating hair-cell mechanoelectrical transduction

(2017) Baptiste Libé-Philippot et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion ofRASA1andMEF2C: A progressive disease

(2016) Rita Ilari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Jugular pit associated with 5q14.3 deletion incorporating the MEF2C locus

(2016) Maryam Al-Shehhi et al.   CLINICAL DYSMORPHOLOGY

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

(2016) Helena Rocha et al.   European Journal of Medical Genetics

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome

(2015) Nadia Boutry-Kryza et al.   European Journal of Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

(2013) Alex R. Paciorkowski et al.   NEUROGENETICS

De novo microdeletion of 5q14.3 excludingMEF2Cin a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum

(2012) Keiko Shimojima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Refining the phenotype associated with MEF2C point mutations

(2012) Thierry Bienvenu et al.   NEUROGENETICS

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

(2011) Christopher W. Carr et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Non-USH2A mutations in USH2 patients

(2011) Thomas Besnard et al.   HUMAN MUTATION

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

(2010) Markus Zweier et al.   HUMAN MUTATION

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

(2010) Inga Ebermann et al.   JOURNAL OF CLINICAL INVESTIGATION

Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15

(2009) D. Ganesamoorthy et al.   CLINICAL CHEMISTRY

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

(2009) Hartmut Engels et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family

(2009) N Hilgert et al.   JOURNAL OF MEDICAL GENETICS

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

Human MLPA Probe Design (H-MAPD): a probe design tool for both electrophoresis-based and bead-coupled human multiplex ligation-dependent probe amplification assays

(2008) Jizu Zhi et al.   BMC GENOMICS

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

(2008) C. Cardoso et al.   NEUROLOGY