Scholars@Duke
Ram Sharma Puranam

Ram Sharma Puranam

Adjunct Assistant Professor in the Department of Neurology
Neurology, Epilepsy and Sleep
puranam@neuro.duke.edu
Duke Box 3676, Durham, NC 27710
401 Bryan Res Bldg, Durham, NC 27710
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Selected Publications

Long-Term Potentiation of Mossy Fiber Feedforward Inhibition of CA3 Pyramidal Cells Maintains E/I Balance in Epilepsy Model.

Journal Article eNeuro · 2022 Insight into the cellular and circuit mechanisms underlying development of temporal lobe epilepsy (TLE) will provide a foundation for improved therapies. We studied a model in which an episode of prolonged seizures is followed by recovery lasting two weeks ... Full text Link to item Cite

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.

Journal Article Hum Gene Ther · April 2021 Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of ... Full text Link to item Cite

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Journal Article Epilepsy Res · December 2016 Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in a single family segregating a balanced translocation with a breakpoint in this X chromosome gene, predicting a partial kn ... Full text Link to item Cite

Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

Journal Article J Neurosci · June 10, 2015 We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed "Genetic Epilepsy and Febrile Seizures Plus" (GEFS(+)). We demonstrate that the breakpoint on the X ... Full text Link to item Cite

Conditional deletion of TrkC does not modify limbic epileptogenesis.

Journal Article Epilepsy Res · November 2012 The neurotrophin receptor, tropomyosin-related kinase B (TrkB), is required for epileptogenesis in the kindling model. The role of a closely related neurotrophin receptor, TrkC, in limbic epileptogenesis is unknown. We examined limbic epileptogenesis in th ... Full text Link to item Cite

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Journal Article Am J Hum Genet · August 10, 2012 Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear wheth ... Full text Link to item Cite

Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts.

Journal Article Circ Res · September 16, 2011 RATIONALE: Fibroblast growth factor homologous factors (FHFs), a subfamily of fibroblast growth factors (FGFs) that are incapable of functioning as growth factors, are intracellular modulators of Na(+) channels and have been linked to neurodegenerative dis ... Full text Link to item Cite

A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26.

Journal Article Ann Neurol · September 2005 Inheritance patterns in twins and multiplex families led us to hypothesize that two loci were segregating in subjects with juvenile myoclonic epilepsy (JME), one predisposing to generalized tonic-clonic seizures (GTCS) and a second to myoclonic seizures. W ... Full text Link to item Cite

X-linked lissencephaly in an Indian family.

Journal Article Neurol India · September 2003 Neuronal migration disorders are an important differential diagnosis to be considered in the evaluation of intractable epilepsy. Though the underlying causative factors which govern their development are many and varied, genetic factors have been found to ... Link to item Cite

Temporal specific patterns of semaphorin gene expression in rat brain after kainic acid-induced status epilepticus.

Journal Article Hippocampus · 2003 Mossy fiber sprouting and other forms of synaptic reorganization may form the basis for a recurrent excitatory network in epileptic foci. Four major classes of axon guidance molecules--the ephrins, netrins, slits, and semaphorins--provide targeting informa ... Full text Link to item Cite

Epilepsy and all that jazz.

Journal Article Nat Med · October 2001 Full text Link to item Cite

The RNase P associated with HeLa cell mitochondria contains an essential RNA component identical in sequence to that of the nuclear RNase P.

Journal Article Mol Cell Biol · January 2001 The mitochondrion-associated RNase P activity (mtRNase P) was extensively purified from HeLa cells and shown to reside in particles with a sedimentation constant ( approximately 17S) very similar to that of the nuclear enzyme (nuRNase P). Furthermore, mtRN ... Full text Link to item Cite

Autoimmunity to munc-18 in Rasmussen's encephalitis.

Journal Article Neuron · November 2000 Rasmussen's encephalitis (RE) is a rare disease of the central nervous system characterized by severe epileptic seizures, progressive degeneration of a single cerebral hemisphere, and autoimmunity directed against glutamate receptor subunit, GluR3. We repo ... Full text Link to item Cite

Seizure disorders in mutant mice: relevance to human epilepsies.

Journal Article Curr Opin Neurobiol · June 1999 The rate at which mutant genes producing an epileptic phenotype in mice have been identified over the past few years has been astounding. Manipulating the genome of mice has led to identification of a diversity of genes whose absence or modification either ... Full text Link to item Cite

Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy.

Journal Article Neurology · December 1998 An autosomal dominant form of human temporal lobe epilepsy (TLE) has been mapped to a region of chromosome 10q that contains the intronless alpha(2A)-adrenergic receptor (alpha(2A)AR) gene. Because mutation of the alpha(2A)AR gene in the mouse fosters epil ... Full text Link to item Cite

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

Journal Article Mol Cell Biol · October 1998 The pathogenetic mechanism of the deafness-associated mitochondrial DNA (mtDNA) T7445C mutation has been investigated in several lymphoblastoid cell lines from members of a New Zealand pedigree exhibiting the mutation in homoplasmic form and from control i ... Full text Link to item Cite

Epilepsy genetics: an abundance of riches for biologists.

Journal Article Curr Biol · February 26, 1998 Twenty-five genes have been identified in which mutations cause epileptic seizures in mice. The gene for a Na+/H+ exchanger has recently been found to underlie the spontaneous mutant slow wave epilepsy. Studies of such mutants should help elucidate the mec ... Full text Link to item Cite

Long-Term Potentiation of Mossy Fiber Feedforward Inhibition of CA3 Pyramidal Cells Maintains E/I Balance in Epilepsy Model.

Journal Article eNeuro · 2022 Insight into the cellular and circuit mechanisms underlying development of temporal lobe epilepsy (TLE) will provide a foundation for improved therapies. We studied a model in which an episode of prolonged seizures is followed by recovery lasting two weeks ... Full text Link to item Cite

Adeno-Associated Virus-Mediated Gene Therapy in the Mashlool, Atp1a3Mashl/+, Mouse Model of Alternating Hemiplegia of Childhood.

Journal Article Hum Gene Ther · April 2021 Alternating Hemiplegia of Childhood (AHC) is a devastating autosomal dominant disorder caused by ATP1A3 mutations, resulting in severe hemiplegia and dystonia spells, ataxia, debilitating disabilities, and premature death. Here, we determine the effects of ... Full text Link to item Cite

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Journal Article Epilepsy Res · December 2016 Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in a single family segregating a balanced translocation with a breakpoint in this X chromosome gene, predicting a partial kn ... Full text Link to item Cite

Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.

Journal Article J Neurosci · June 10, 2015 We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed "Genetic Epilepsy and Febrile Seizures Plus" (GEFS(+)). We demonstrate that the breakpoint on the X ... Full text Link to item Cite

Conditional deletion of TrkC does not modify limbic epileptogenesis.

Journal Article Epilepsy Res · November 2012 The neurotrophin receptor, tropomyosin-related kinase B (TrkB), is required for epileptogenesis in the kindling model. The role of a closely related neurotrophin receptor, TrkC, in limbic epileptogenesis is unknown. We examined limbic epileptogenesis in th ... Full text Link to item Cite

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Journal Article Am J Hum Genet · August 10, 2012 Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little is known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals with IGE; however, it remains unclear wheth ... Full text Link to item Cite

Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts.

Journal Article Circ Res · September 16, 2011 RATIONALE: Fibroblast growth factor homologous factors (FHFs), a subfamily of fibroblast growth factors (FGFs) that are incapable of functioning as growth factors, are intracellular modulators of Na(+) channels and have been linked to neurodegenerative dis ... Full text Link to item Cite

A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26.

Journal Article Ann Neurol · September 2005 Inheritance patterns in twins and multiplex families led us to hypothesize that two loci were segregating in subjects with juvenile myoclonic epilepsy (JME), one predisposing to generalized tonic-clonic seizures (GTCS) and a second to myoclonic seizures. W ... Full text Link to item Cite

X-linked lissencephaly in an Indian family.

Journal Article Neurol India · September 2003 Neuronal migration disorders are an important differential diagnosis to be considered in the evaluation of intractable epilepsy. Though the underlying causative factors which govern their development are many and varied, genetic factors have been found to ... Link to item Cite

Temporal specific patterns of semaphorin gene expression in rat brain after kainic acid-induced status epilepticus.

Journal Article Hippocampus · 2003 Mossy fiber sprouting and other forms of synaptic reorganization may form the basis for a recurrent excitatory network in epileptic foci. Four major classes of axon guidance molecules--the ephrins, netrins, slits, and semaphorins--provide targeting informa ... Full text Link to item Cite

Epilepsy and all that jazz.

Journal Article Nat Med · October 2001 Full text Link to item Cite

The RNase P associated with HeLa cell mitochondria contains an essential RNA component identical in sequence to that of the nuclear RNase P.

Journal Article Mol Cell Biol · January 2001 The mitochondrion-associated RNase P activity (mtRNase P) was extensively purified from HeLa cells and shown to reside in particles with a sedimentation constant ( approximately 17S) very similar to that of the nuclear enzyme (nuRNase P). Furthermore, mtRN ... Full text Link to item Cite

Autoimmunity to munc-18 in Rasmussen's encephalitis.

Journal Article Neuron · November 2000 Rasmussen's encephalitis (RE) is a rare disease of the central nervous system characterized by severe epileptic seizures, progressive degeneration of a single cerebral hemisphere, and autoimmunity directed against glutamate receptor subunit, GluR3. We repo ... Full text Link to item Cite

Seizure disorders in mutant mice: relevance to human epilepsies.

Journal Article Curr Opin Neurobiol · June 1999 The rate at which mutant genes producing an epileptic phenotype in mice have been identified over the past few years has been astounding. Manipulating the genome of mice has led to identification of a diversity of genes whose absence or modification either ... Full text Link to item Cite

Evaluation of the alpha(2A)-adrenergic receptor gene in a heritable form of temporal lobe epilepsy.

Journal Article Neurology · December 1998 An autosomal dominant form of human temporal lobe epilepsy (TLE) has been mapped to a region of chromosome 10q that contains the intronless alpha(2A)-adrenergic receptor (alpha(2A)AR) gene. Because mutation of the alpha(2A)AR gene in the mouse fosters epil ... Full text Link to item Cite

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

Journal Article Mol Cell Biol · October 1998 The pathogenetic mechanism of the deafness-associated mitochondrial DNA (mtDNA) T7445C mutation has been investigated in several lymphoblastoid cell lines from members of a New Zealand pedigree exhibiting the mutation in homoplasmic form and from control i ... Full text Link to item Cite

Epilepsy genetics: an abundance of riches for biologists.

Journal Article Curr Biol · February 26, 1998 Twenty-five genes have been identified in which mutations cause epileptic seizures in mice. The gene for a Na+/H+ exchanger has recently been found to underlie the spontaneous mutant slow wave epilepsy. Studies of such mutants should help elucidate the mec ... Full text Link to item Cite

Chromosomal localization of gene for human glutamate receptor subunit-7.

Journal Article Somat Cell Mol Genet · November 1993 We isolated a human glutamate receptor subunit 7 (GluR-7) cosmid after high stringency screening of a human genomic placental library using a rat GluR-7 cDNA as a probe. A 614-bp fragment of the GluR-7 cosmid was sequenced, and an exon that encodes 53 amin ... Full text Link to item Cite

Nucleotide sequences of the RNA subunit of RNase P from several mammals.

Journal Article Genomics · November 1993 Sequences of the RNA subunit of RNase P from five primate and two rodent species have been determined. The extent of the differences among these sequences and the corresponding RNA from human tissue correlates to known phylogenetic relationships. All the s ... Full text Link to item Cite

Cloning and expression of a novel Na(+)-dependent neutral amino acid transporter structurally related to mammalian Na+/glutamate cotransporters.

Journal Article J Biol Chem · July 25, 1993 A cDNA has been isolated from human hippocampus that appears to encode a novel Na(+)-dependent, Cl(-)-independent, neutral amino acid transporter. The putative protein, designated SATT, is 529 amino acids long and exhibits significant amino acid sequence i ... Link to item Cite

The gene encoding the glutamate receptor subunit GluR5 is located on human chromosome 21q21.1-22.1 in the vicinity of the gene for familial amyotrophic lateral sclerosis.

Journal Article Proc Natl Acad Sci U S A · January 1, 1993 Genomic clones of the human non-N-methyl-D-aspartate (non-NMDA) glutamate receptor subunit GluR5 were isolated by high-stringency screening of a cosmid library using the rat cDNA as a probe. The chromosomal localization of the human GluR5 gene has been est ... Full text Link to item Cite

Functions of cytochrome c in regulation of electron transfer and protein folding.

Journal Article Indian J Biochem Biophys · April 1992 Cytochrome c, a "mobile electron carrier" of the mitochondrial respiratory chain, also occurs in detectable amounts in the cytosol, and can receive electrons from cytochromes present in endoplasmic reticulum and plasma membranes as well as from superoxide ... Link to item Cite

Oxidative activities in mitochondria-like particles from Setaria digitata, a filarial parasite.

Journal Article Biochem J · December 1, 1988 The oxidative metabolic potential of Setaria digitata, a filarial parasite found in the intraperitoneal cavity of cattle, was investigated. These worms showed active wriggling movements which were not affected by respiratory poisons such as cyanide, roteno ... Full text Link to item Cite

Oxidations in kidney mitochondria of heat-exposed rats: regulation by cytochrome c.

Journal Article J Bioenerg Biomembr · December 1984 Exposure of rats to higher environmental temperature (36-37 degrees C) decreased the capacity of their kidney mitochondria to oxidize succinate. The decrease was corrected on the addition of exogenous cytochrome c. Kidney mitochondria of heat-exposed anima ... Full text Link to item Cite

Noradrenaline treatment of rats stimulates H2O2 generation in liver mitochondria.

Journal Article Biochem J · September 15, 1983 Treatment of rats with noradrenaline stimulated H2O2 generation in liver mitochondria using succinate, choline or glycerol 1-phosphate as substrate. The dehydrogenase activity with either succinate or choline as substrate showed no change, whereas that wit ... Full text Link to item Cite