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

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Andreas Brunklaus, Tobias Brünger, Tony Feng, +32

Brain

Neurological DisorderScn1a Variants ClusterTherapeutic ImplicationsSynaptic SignalingEpilepsy +16

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen, +29

Molecular Syndromology

Biallelic <i>CACNA1A</i> mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik, +11

American Journal of Medical Genetics Part A

Cerebral blood‐flow velocities in predicting outcome of asphyxiated newborn infants

Pilvi Ilves, Mare Lintrop, Tuuli Metsvaht, +2

Acta Paediatrica

<i>De Novo</i><i>SCN8A</i> Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, +11

Journal of Child Neurology

Monosomy 1p36 – A multifaceted and still enigmatic syndrome: Four clinically diverse cases with shared white matter abnormalities

Eve Õiglane‐Shlik, Sanna Puusepp, Inga Talvik, +8

European Journal of Paediatric Neurology

A novel c.2T &gt; C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

Katrin Õunap, Helen Puusepp‐Benazzouz, Maire Peters, +5

European Journal of Medical Genetics

Genome InstabilityMendelian DisorderC MutationGenetic DisorderGenetics +8

Epilepsy after perinatal stroke with different vascular subtypes

Rael Laugesaar, Ulvi Vaher, Silva Lõo, +7

Epilepsia Open

Clinical Phenotype of De Novo <i>GNAO1</i> Mutation

Inga Talvik, Rikke S. Møller, Merilin Vaher, +5

Child Neurology Open