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

Publication ,  Journal Article
Puranam, RS; He, XP; Yao, L; Le, T; Jang, W; Rehder, CW; Lewis, DV; McNamara, JO
Published in: 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 chromosome disrupted a gene that encodes an auxiliary protein of voltage-gated Na(+) channels, fibroblast growth factor 13 (Fgf13). Female mice in which one Fgf13 allele was deleted exhibited hyperthermia-induced seizures and epilepsy. Anatomic studies revealed expression of Fgf13 mRNA in both excitatory and inhibitory neurons of hippocampus. Electrophysiological recordings revealed decreased inhibitory and increased excitatory synaptic inputs in hippocampal neurons of Fgf13 mutants. We speculate that reduced expression of Fgf13 impairs excitability of inhibitory interneurons, resulting in enhanced excitability within local circuits of hippocampus and the clinical phenotype of epilepsy. These findings reveal a novel cause of this syndrome and underscore the powerful role of FGF13 in control of neuronal excitability.

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Published In

J Neurosci

DOI

EISSN

1529-2401

Publication Date

June 10, 2015

Volume

35

Issue

23

Start / End Page

8866 / 8881

Location

United States

Related Subject Headings

  • Young Adult
  • X Chromosome
  • Translocation, Genetic
  • Synaptic Potentials
  • Synapses
  • Sex Factors
  • Seizures, Febrile
  • Neurons
  • Neurology & Neurosurgery
  • Nerve Tissue Proteins
 

Citation

APA
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ICMJE
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Puranam, R. S., He, X. P., Yao, L., Le, T., Jang, W., Rehder, C. W., … McNamara, J. O. (2015). Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus. J Neurosci, 35(23), 8866–8881. https://doi.org/10.1523/JNEUROSCI.3470-14.2015
Puranam, Ram S., Xiao Ping He, Lijun Yao, Tri Le, Wonjo Jang, Catherine W. Rehder, Darrell V. Lewis, and James O. McNamara. “Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.J Neurosci 35, no. 23 (June 10, 2015): 8866–81. https://doi.org/10.1523/JNEUROSCI.3470-14.2015.
Puranam RS, He XP, Yao L, Le T, Jang W, Rehder CW, et al. Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus. J Neurosci. 2015 Jun 10;35(23):8866–81.
Puranam, Ram S., et al. “Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.J Neurosci, vol. 35, no. 23, June 2015, pp. 8866–81. Pubmed, doi:10.1523/JNEUROSCI.3470-14.2015.
Puranam RS, He XP, Yao L, Le T, Jang W, Rehder CW, Lewis DV, McNamara JO. Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus. J Neurosci. 2015 Jun 10;35(23):8866–8881.

Published In

J Neurosci

DOI

EISSN

1529-2401

Publication Date

June 10, 2015

Volume

35

Issue

23

Start / End Page

8866 / 8881

Location

United States

Related Subject Headings

  • Young Adult
  • X Chromosome
  • Translocation, Genetic
  • Synaptic Potentials
  • Synapses
  • Sex Factors
  • Seizures, Febrile
  • Neurons
  • Neurology & Neurosurgery
  • Nerve Tissue Proteins