Esther Leshinsky‐Silver

Early onset epileptic encephalopathy caused by de novo <i><scp>SCN</scp>8A</i> mutations

Chihiro Ohba, Mitsuhiro Kato, Satoru Takahashi et al. · Epilepsia · 2014 · 169 citations

Life Sciences, Genetics, Molecular Genetics +16

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev et al. · Neuron · 2013 · 166 citations · Full text

Life Sciences, Neuroscience, Pediatrics +14

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

Orly Agamy, Bruria Ben Zeev, Dorit Lev et al. · The American Journal of Human Genetics · 2010 · 147 citations · Full text

Life Sciences, Genetics, Neuroscience +9

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

Sahar Esmaeeli Nieh, Maura R.Z. Madou, Minhajuddin Sirajuddin et al. · Annals of Clinical and Translational Neurology · 2015 · 124 citations · Full text

Life Sciences, Genetics, Neurology +17

<i>VPS53</i> mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

Miora Feinstein, Hagit Flusser, Tally Lerman‐Sagie et al. · Journal of Medical Genetics · 2014 · 95 citations

Life Sciences, Genetics, Molecular Genetics +17