Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

WDR45 mutations in three male patients with West syndrome

(2016) Mitsuko Nakashima et al.   JOURNAL OF HUMAN GENETICS

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature

(2016) Sabine Hoffjan et al.   MOLECULAR AND CELLULAR PROBES

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification

(2016) Sangeetha Yoganathan et al.   NEUROPEDIATRICS

SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

(2015) Weijing Kong et al.   EPILEPSIA

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

(2015) Affef Abidi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

(2015) Kenya Nishioka et al.   NEUROBIOLOGY OF AGING

De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain

(2014) Chihiro Ohba et al.   JOURNAL OF HUMAN GENETICS

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

(2013) Susan J. Hayflick et al.   BRAIN

Newly Characterized Forms of Neurodegeneration with Brain Iron Accumulation

(2013) Joshua M. Doorn et al.   Current Neurology and Neuroscience Reports

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

(2012) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS