Matthew Zemel
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View article: Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i> Open
We describe a cohort of 17 individuals with pathogenic or likely pathogenic missense variants in the voltage-sensing and pore domains of Kv10.2, including 14 previously unreported individuals. We present evidence for a putative emerging ge…
View article: Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy
Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsy Open
Objective KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants. Methods We screened 893 individuals with develop…
View article: Table of Contents
Table of Contents Open
What are the effects of individualized diet fortifi cation for growth and development in infants born preterm receiving
View article: Genetic convergence of developmental and epileptic encephalopathies and intellectual disability
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability Open
Aim To determine whether genes that cause developmental and epileptic encephalopathies (DEEs) are more commonly implicated in intellectual disability with epilepsy as a comorbid feature than in intellectual disability only. Method We perfo…
View article: Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy Open
Corrigendum1 December 2017Open Access Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy Borislav Dejanovic Borislav Dejanovic Search for more papers by this author Tan…
View article: Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i>
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><span>WDR</span>45</i> Open
Summary Heterozygous de novo variants in the autophagy gene, WDR 45 , are found in beta‐propeller protein‐associated neurodegeneration ( BPAN ). BPAN is characterized by adolescent onset dementia and dystonia; 66% patients have seizures. W…
View article: Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy Open
View article: Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy
Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy Open
While recent molecular findings in epileptic spasms emphasize the contribution of de novo mutations, we highlight the relevance of inherited mutations in the setting of a family history of focal epilepsies. We also illustrate the utility o…
View article: Intragenic deletions of <i>ALDH7A1</i> in pyridoxine-dependent epilepsy caused by <i>Alu</i> - <i>Alu</i> recombination
Intragenic deletions of <i>ALDH7A1</i> in pyridoxine-dependent epilepsy caused by <i>Alu</i> - <i>Alu</i> recombination Open
Patients with clinical pyridoxine-dependent epilepsy and a single identifiable mutation in ALDH7A1 warrant further investigation for copy number changes involving the ALHD7A1 gene.
View article: Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures Open
View article: MUTATIONS IN THE GABA TRANSPORTER SLC6A1 CAUSE EPILEPSY WITH MYOCLONIC ATONIC SEIZURES
MUTATIONS IN THE GABA TRANSPORTER SLC6A1 CAUSE EPILEPSY WITH MYOCLONIC ATONIC SEIZURES Open
GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for re-uptake of GABA from the synapse. In this study, targeted resequencing of 644 individuals with epileptic enceph…