Lubov Blumkin

<i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

Chihiro Ohba, Masaaki Shiina, Jun Tohyama et al. · Epilepsia · 2015 · 92 citations · Full text

Medicine, Genetics, Neurology +17

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

Maya Kuperberg, Dorit Lev, Lubov Blumkin et al. · Journal of Child Neurology · 2016 · 66 citations

Medicine, Genetics, Neurology +17

The molecular and phenotypic spectrum of <i><scp>IQSEC</scp>2</i>‐related epilepsy

Ayelet Zerem, Kazuhiro Haginoya, Dorit Lev et al. · Epilepsia · 2016 · 58 citations · Full text

Life Sciences, Genetics, Neurology +17

Costeff syndrome: clinical features and natural history

Gilad Yahalom, Yair Anikster, Ruth Huna-Baron et al. · Journal of Neurology · 2014 · 32 citations

Life Sciences, Neurology, Human Genetics +2

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

Ayelet Zerem, Dorit Lev, Lubov Blumkin et al. · European Journal of Paediatric Neurology · 2014 · 30 citations

Life Sciences, Genetics, Molecular Genetics +9