De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria
remains poorly understood. Using whole-exome sequencing we found de novo …
remains poorly understood. Using whole-exome sequencing we found de novo …
[HTML][HTML] The ketogenic diet 2011: how it works
K Politi, L Shemer-Meiri, A Shuper… - Epilepsy research and …, 2011 - hindawi.com
Although the ketogenic diet (KD) has been widely accepted as a legitimate and successful
therapy for epilepsy and other neurological disorders, its mechanism of action remains an …
therapy for epilepsy and other neurological disorders, its mechanism of action remains an …
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
MM van der Knoop, R Maroofian, Y Fukata… - Brain, 2022 - academic.oup.com
Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell
membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 …
membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 …
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
M Yechieli, S Gulsuner, H Ben-Pazi, A Fattal… - Journal of Medical …, 2022 - jmg.bmj.com
Objective To determine the yield of genetic diagnoses using chromosomal microarray (CMA)
and trio whole exome sequencing (WES), separately and combined, among patients with …
and trio whole exome sequencing (WES), separately and combined, among patients with …
Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study
B Pode-Shakked, L Shemer-Meiri, A Harmelin… - Molecular genetics and …, 2013 - Elsevier
Abstract Introduction Phenylalanine (Phe) deficiency and its clinical manifestations have
been previously described mostly as sporadic case reports dating back to the 1960's and …
been previously described mostly as sporadic case reports dating back to the 1960's and …
[HTML][HTML] Neurodevelopmental Outcome of Very Low Birth Weight Infants in the Northern District of Israel: A Cross-Sectional Study
M Molad, A Gover, Z Marai, K Lavie-Nevo, I Kessel… - Children, 2023 - mdpi.com
Background: Currently, no local database in Israel collects neurodevelopmental outcomes of
very low birth weight (VLBW) preterm infants. We investigated neurodevelopmental …
very low birth weight (VLBW) preterm infants. We investigated neurodevelopmental …
[CITATION][C] The Ketogenic Diet 2011: How It Works
P Keren, SM Lilach, S Avinoam - Epilepsy Research and … - Hindawi Publishing Corporation
[CITATION][C] Minor Head Trauma Induced Recurrent Delayed Encephalopathy, Seizures and Hemiparesis: A Rare Unrecognized Clinical Entity. Eli Shahar, Zohar …
E Shahar, Z Keidar… - JOURNAL OF …, 2013 - LIPPINCOTT WILLIAMS & WILKINS …