NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

(2013) Kazuyuki Nakamura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

De Novo Mutations inSLC35A2Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

(2013) Hirofumi Kodera et al.   HUMAN MUTATION

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

(2012) Y. Jane Tavyev Asher et al.   European Journal of Medical Genetics

Mutant huntingtin affects endocytosis in striatal cells by altering the binding of AP-2 to membranes

(2012) Janina E. Borgonovo et al.   EXPERIMENTAL NEUROLOGY

LRRK2 Controls an EndoA Phosphorylation Cycle in Synaptic Endocytosis

(2012) Samer Matta et al.   NEURON

Clinical Evaluation and Diagnosis of Severe Epilepsy Syndromes of Early Childhood

(2009) Mary L. Zupanc   JOURNAL OF CHILD NEUROLOGY

Late endocytic dysfunction as a putative cause of amyloid fibril formation in Alzheimer’s disease

(2009) Kohei Yuyama et al.   JOURNAL OF NEUROCHEMISTRY