Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Johannes R. Lemke, Dennis Lal, Eva M. Reinthaler, +67

Nature Genetics

Neurobiology Of DiseaseNeurophysiologyGeneticsRolandic SpikesClinical Neuroscience +8

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

Jiong Tao, Hilde Van Esch, M. Hagedorn-Greiwe, +9

The American Journal of Human Genetics

Developmental AnomalySevere Neurodevelopmental RetardationDevelopmental BiologySynaptic SignalingBrain Development +9

Febrile infection–related epilepsy syndrome (FIRES): A nonencephalitic encephalopathy in childhood

Andreas van Baalen, Martin Häusler, Rainer Boor, +6

Epilepsia

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons, Nicole I. Wolf, Nathan McNeil, +18

The American Journal of Human Genetics

Leukoencephalopathy HypomyelinationDe Novo MutationNeurobiology Of DiseaseNeurological DisorderNeuroanatomy +10

Evidence That Paternal Expression of the ε-Sarcoglycan Gene Accounts for Reduced Penetrance in Myoclonus-Dystonia

B. Müller, Katja Hedrich, Norman Kock, +12

The American Journal of Human Genetics

Molecular NeuroscienceReduced PenetranceGeneticsPathologyDegenerative Disease +4

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

Marjo S. van der Knaap, S. Naidu, Petra J. W. Pouwels, +7

PubMed

Operative and Technical Complications of Vagus Nerve Stimulator Implantation

Sebastian Spuck, Volker Tronnier, Iren Orosz, +4

Operative Neurosurgery

Deletions in 16p13 including <i>GRIN2A</i> in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region

C. Reutlinger, Ingo Helbig, Barbara Gawelczyk, +15

Epilepsia

Neurological DisorderGeneticsNeurophysiological BiomarkersRolandic RegionSocial Sciences +15

FLIP&amp;FLAP—A training programme for children and adolescents with epilepsy, and their parents

S. Jantzen, Esther Müller–Godeffroy, T. Hallfahrt-Krisl, +6

Seizure

Child PsychologyDevelopmental DisabilityPediatric NeurosurgeryFlap—a Training ProgrammePediatrics +8

MR-Imaging Findings in Children with Sturge-Weber Syndrome

Jürgen Sperner, I. Schmauser, R. Bittner, +5

Neuropediatrics

Leptomeningeal AngiomatosisNeurological DisorderDiagnosisVascular MalformationPaediatric Radiology +16