Analysis of shared heritability in common disorders of the brain

Brainstorm Consortium, V Anttila, B Bulik-Sullivan… - Science, 2018 - science.org
INTRODUCTION Brain disorders may exhibit shared symptoms and substantial
epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed …

A potassium channel mutation in neonatal human epilepsy

C Biervert, BC Schroeder, C Kubisch, SF Berkovic… - Science, 1998 - science.org
Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy,
with loci mapped to human chromosomes 20q13. 3 and 8q24. By positional cloning, a …

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

A Ramirez, A Heimbach, J Gründemann, B Stiller… - Nature …, 2006 - nature.com
Neurodegenerative disorders such as Parkinson and Alzheimer disease cause motor and
cognitive dysfunction and belong to a heterogeneous group of common and disabling …

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

K Yokote, S Chanprasert, L Lee, K Eirich… - Human …, 2017 - Wiley Online Library
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a
constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological …

[HTML][HTML] KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness

C Kubisch, BC Schroeder, T Friedrich, B Lütjohann… - Cell, 1999 - cell.com
Potassium channels regulate electrical signaling and the ionic composition of biological
fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene …

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

A Meindl, H Hellebrand, C Wiek, V Erven… - Nature …, 2010 - nature.com
Germline mutations in a number of genes involved in the recombinational repair of DNA
double-strand breaks are associated with predisposition to breast and ovarian cancer …

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

P Gormley, V Anttila, BS Winsvold, P Palta, T Esko… - Nature …, 2016 - nature.com
Migraine is a debilitating neurological disorder affecting around one in seven people
worldwide, but its molecular mechanisms remain poorly understood. There is some debate …

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

BC Schroeder, C Kubisch, V Stein, TJ Jentsch - Nature, 1998 - nature.com
Abstract Epilepsy affects more than 0.5% of the world's population and has a large genetic
component. It is due to an electrical hyperexcitability in the central nervous system …

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

H Bolz, B von Brederlow, A Ramírez, EC Bryda… - Nature …, 2001 - nature.com
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by
congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to …

Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

K Haug, M Warnstedt, AK Alekov, T Sander… - Nature …, 2003 - nature.com
Idiopathic generalized epilepsy (IGE) is an inherited neurological disorder affecting about
0.4% of the world's population. Mutations in ten genes causing distinct forms of idiopathic …