A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens, +47

Nature Genetics

GeneticsNeuroscienceCentral Nervous SystemMedicinePotassium Homeostasis +1

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

Eija Siintola, Meral Topçu, Nina Aula, +8

The American Journal of Human Genetics

Molecular NeuroscienceMolecular PhysiologyEpendymaPathologyIntracellular Trafficking +6

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

Kimmo Virtaneva, Elena D’Amato, Jinmin Miao, +13

Nature Genetics

GeneticsNeuroscienceMyoclonus EpilepsyGenetic Disorder

Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

Anne Polvi, Tarja Linnankivi, Tero Kivelä, +9

The American Journal of Human Genetics

Cause Cerebroretinal MicroangiopathyOphthalmologyPathologyMolecular MedicineNeuropathology +3

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

Hirotaka Tao, J. Robert Manak, Levi P. Sowers, +33

The American Journal of Human Genetics

Molecular NeuroscienceAllergyGeneticsExperimental NeuropathologyCentral Nervous System +3

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Maria Kousi, Eija Siintola, Lenka Dvořáková, +9

Brain

GeneticsCln7/mfsd8 GeneCln7/mfsd8 MutationsPathologyDisease Gene Identification +14

<i>CHD2</i>variants are a risk factor for photosensitivity in epilepsy

Elizabeth Galizia, Candace T. Myers, Costin Leu, +44

Brain

GeneticsGenetic EpidemiologyUnique Chd2 VariantsDisease Gene IdentificationSynaptic Signaling +15

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Juha Kolehmainen, Robert N. Wilkinson, Anna-Elina Lehesjoki, +14

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyCohen Syndrome +1

PRRT2 Mutations are the major cause of benign familial infantile seizures

Julian Schubert, Roberta Paravidino, Felicitas Becker, +34

Human Mutation

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

Karen Fritchie, Eija Siintola, Diane Armao, +10

Acta Neuropathologica

First Prenatal ScreeningNovel MutationGenetic DisorderMedicineGenetics +4