D M Kullmann

Summary

Affiliation: University College London
Country: UK

Publications

  1. doi request reprint Plasticity of inhibition
    Dimitri M Kullmann
    UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Neuron 75:951-62. 2012
  2. pmc The Mother of All Battles 20 years on: is LTP expressed pre- or postsynaptically?
    Dimitri M Kullmann
    UCL Institute of Neurology, University College London, London WC1N 3BG, UK
    J Physiol 590:2213-6. 2012
  3. doi request reprint Interneuron networks in the hippocampus
    Dimitri M Kullmann
    UCL Institute of Neurology, Queen Square, London, United Kingdom
    Curr Opin Neurobiol 21:709-16. 2011
  4. pmc Oscillations and filtering networks support flexible routing of information
    Thomas Akam
    UCL Institute of Neurology, Queen Square, London, UK
    Neuron 67:308-20. 2010
  5. pmc Presynaptic, extrasynaptic and axonal GABAA receptors in the CNS: where and why?
    Dimitri M Kullmann
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Prog Biophys Mol Biol 87:33-46. 2005
  6. ncbi request reprint Neurological disorders caused by inherited ion-channel mutations
    Dimitri M Kullmann
    Institute of Neurology, University College London, and The National Hospital for Neurology and Neurosurgery, London, UK
    Lancet Neurol 1:157-66. 2002
  7. ncbi request reprint Epilepsy genetics
    Dimitri M Kullmann
    Institute of Neurology, University College London, London, UK
    Drugs Today (Barc) 39:725-32. 2003
  8. doi request reprint LTP and LTD in cortical GABAergic interneurons: emerging rules and roles
    Dimitri M Kullmann
    UCL Institute of Neurology, Department of Clinical Neurology, Queen Square, London WC1N 3BG, United Kingdom
    Neuropharmacology 60:712-9. 2011
  9. doi request reprint Neurological channelopathies
    Dimitri M Kullmann
    Institute of Neurology, University College London, Queen Square, London WC1N3BG, United Kingdom
    Annu Rev Neurosci 33:151-72. 2010
  10. pmc Silent synapses: what are they telling us about long-term potentiation?
    Dimitri M Kullmann
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Philos Trans R Soc Lond B Biol Sci 358:727-33. 2003

Collaborators

Detail Information

Publications65

  1. doi request reprint Plasticity of inhibition
    Dimitri M Kullmann
    UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Neuron 75:951-62. 2012
    ....
  2. pmc The Mother of All Battles 20 years on: is LTP expressed pre- or postsynaptically?
    Dimitri M Kullmann
    UCL Institute of Neurology, University College London, London WC1N 3BG, UK
    J Physiol 590:2213-6. 2012
    ..As new forms of LTP are discovered at different synapses, a simple resolution of the pre- versus postsynaptic debate seems increasingly remote...
  3. doi request reprint Interneuron networks in the hippocampus
    Dimitri M Kullmann
    UCL Institute of Neurology, Queen Square, London, United Kingdom
    Curr Opin Neurobiol 21:709-16. 2011
    ..This review examines recent progress in understanding how different hippocampal interneuron networks contribute to feedback and feed-forward inhibition at different timescales...
  4. pmc Oscillations and filtering networks support flexible routing of information
    Thomas Akam
    UCL Institute of Neurology, Queen Square, London, UK
    Neuron 67:308-20. 2010
    ..This constitutes a mechanism for flexible signal routing in neural circuits, which exploits sparsely synchronized network oscillations and temporal filtering by feed-forward inhibition...
  5. pmc Presynaptic, extrasynaptic and axonal GABAA receptors in the CNS: where and why?
    Dimitri M Kullmann
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Prog Biophys Mol Biol 87:33-46. 2005
    ..Tonic signalling appears to be mediated by extrasynaptic receptors. The adaptive significance of this form of signalling remains poorly understood...
  6. ncbi request reprint Neurological disorders caused by inherited ion-channel mutations
    Dimitri M Kullmann
    Institute of Neurology, University College London, and The National Hospital for Neurology and Neurosurgery, London, UK
    Lancet Neurol 1:157-66. 2002
    ..This review summarises the clinical features of the known neurological channelopathies, within the context of the functions of the individual ion channels...
  7. ncbi request reprint Epilepsy genetics
    Dimitri M Kullmann
    Institute of Neurology, University College London, London, UK
    Drugs Today (Barc) 39:725-32. 2003
    ..The next decade will likely reveal whether these or related genes also act as susceptibility factors for sporadic epilepsy...
  8. doi request reprint LTP and LTD in cortical GABAergic interneurons: emerging rules and roles
    Dimitri M Kullmann
    UCL Institute of Neurology, Department of Clinical Neurology, Queen Square, London WC1N 3BG, United Kingdom
    Neuropharmacology 60:712-9. 2011
    ..This article is part of a Special Issue entitled 'Synaptic Plasticity & Interneurons'...
  9. doi request reprint Neurological channelopathies
    Dimitri M Kullmann
    Institute of Neurology, University College London, Queen Square, London WC1N3BG, United Kingdom
    Annu Rev Neurosci 33:151-72. 2010
    ....
  10. pmc Silent synapses: what are they telling us about long-term potentiation?
    Dimitri M Kullmann
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Philos Trans R Soc Lond B Biol Sci 358:727-33. 2003
    ..Some aspects of the early stages of LTP expression remain open to alternative explanations...
  11. pmc Neurological channelopathies: new insights into disease mechanisms and ion channel function
    Dimitri M Kullmann
    Institute of Neurology, University College London, Department of Clinical Neurology, Queen Square, London WC1N 3BG, UK
    J Physiol 588:1823-7. 2010
    ..Here we highlight some unanswered questions, and some promising areas for research that will likely lead to a fuller understanding of the link from molecular lesion to disease...
  12. ncbi request reprint Glutamatergic modulation of GABAergic signaling among hippocampal interneurons: novel mechanisms regulating hippocampal excitability
    Dimitri M Kullmann
    Institute of Neurology, UCL Queen Square, London, WC1N 3BG, UK
    Epilepsia 43:174-8. 2002
    ..This study addresses the modulation of GABA release from interneuron terminals by presynaptic glutamate receptors...
  13. ncbi request reprint The neuronal channelopathies
    Dimitri M Kullmann
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Brain 125:1177-95. 2002
    ..Future developments are likely to include the discovery of other ion channel genes associated with inherited and sporadic CNS disorders. The full range of manifestations of inherited ion channel mutations remains to be established...
  14. pmc Roles of distinct glutamate receptors in induction of anti-Hebbian long-term potentiation
    Dimitri M Kullmann
    UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    J Physiol 586:1481-6. 2008
    ..As for group I metabotropic glutamate receptors, their role in anti-Hebbian LTP is permissive at the very least in some interneuron types, although an instructive role has been suggested in other forms of activity-dependent plasticity...
  15. ncbi request reprint Presynaptic kainate receptors in the hippocampus: slowly emerging from obscurity
    D M Kullmann
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom
    Neuron 32:561-4. 2001
    ..Because synaptically released glutamate mimics many of the actions of exogenous agonists, presynaptic kainate receptors potentially play an extensive role in hippocampal signaling...
  16. ncbi request reprint Long-term synaptic plasticity in hippocampal interneurons
    Dimitri M Kullmann
    Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, United Kingdom
    Nat Rev Neurosci 8:687-99. 2007
    ..We further discuss how the remarkable plasticity of glutamatergic synapses on interneurons greatly enhances the computational capacity of the cortical microcircuit...
  17. pmc Target-cell specificity of kainate autoreceptor and Ca2+-store-dependent short-term plasticity at hippocampal mossy fiber synapses
    Ricardo Scott
    Institute of Neurology, University College London, London, United Kingdom
    J Neurosci 28:13139-49. 2008
    ..Thus, KAR-Ca(2+) store coupling acts as a synapse-specific, short-range autoreceptor mechanism...
  18. pmc Anti-Hebbian long-term potentiation in the hippocampal feedback inhibitory circuit
    Karri P Lamsa
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Science 315:1262-6. 2007
    ..Anti-Hebbian LTP may occur in interneurons that are silent during periods of intense pyramidal cell firing, such as sharp waves, and lead to their altered activation during theta activity...
  19. ncbi request reprint Relative picrotoxin insensitivity distinguishes ionotropic GABA receptor-mediated IPSCs in hippocampal interneurons
    Alexey Semyanov
    University College London, Institute of Neurology, Queen Square, UK
    Neuropharmacology 43:726-36. 2002
    ..The presence of relatively picrotoxin-resistant GABA(A) receptors in interneurons provides a potential target for agents to modulate the activity of sub-populations of hippocampal neurons...
  20. pmc Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins
    T D Graves
    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom
    Neurology 75:367-72. 2010
    ..One of the mutations was also found in a distantly related family, providing evidence of the influence of genetic background on the EA1 phenotype...
  21. ncbi request reprint Monosynaptic GABAergic signaling from dentate to CA3 with a pharmacological and physiological profile typical of mossy fiber synapses
    M C Walker
    Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square, WC1N 3BG, London, United Kingdom
    Neuron 29:703-15. 2001
    ..GABAergic transmission from the dentate gyrus to CA3 has major implications not only for information flow into the hippocampus but also for developmental and pathological processes involving the hippocampus...
  22. ncbi request reprint Multiple and plastic receptors mediate tonic GABAA receptor currents in the hippocampus
    Annalisa Scimemi
    Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
    J Neurosci 25:10016-24. 2005
    ..The relative contribution of these components changes after the induction of epilepsy, implying an adaptive plasticity of the tonic current in the presence of spontaneous seizures...
  23. ncbi request reprint Kainate receptor-dependent axonal depolarization and action potential initiation in interneurons
    A Semyanov
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Neurosci 4:718-23. 2001
    ..Axonal receptors are thus important in initiating the intense interneuronal activity triggered by kainate, which in turn influences inhibitory signaling to principal cells...
  24. pmc Role of ionotropic glutamate receptors in long-term potentiation in rat hippocampal CA1 oriens-lacunosum moleculare interneurons
    Iris Oren
    Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
    J Neurosci 29:939-50. 2009
    ..Glutamatergic synapses on O-LM cells thus behave in a homogeneous manner and exhibit LTP dependent on Ca(2+)-permeable AMPA receptors...
  25. ncbi request reprint GABA uptake regulates cortical excitability via cell type-specific tonic inhibition
    Alexey Semyanov
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Neurosci 6:484-90. 2003
    ..Reducing the tonic conductance in interneurons enhanced their excitability and the inhibitory drive to pyramidal cells. These results point to a role for cell type-dependent tonic inhibition in regulating cortical excitability...
  26. pmc NR2B-containing receptors mediate cross talk among hippocampal synapses
    Annalisa Scimemi
    Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
    J Neurosci 24:4767-77. 2004
    ..These NMDAR isoforms thus play complementary roles in sensing global and local glutamate signals, respectively...
  27. ncbi request reprint Plasticity of GABA(B) receptor-mediated heterosynaptic interactions at mossy fibers after status epilepticus
    Kate E Chandler
    Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
    J Neurosci 23:11382-91. 2003
    ..Failure of GABA(B) receptor-mediated modulation of mossy fiber transmission at mossy fibers may contribute to the development of spontaneous seizures after status epilepticus...
  28. ncbi request reprint Hebbian LTP in feed-forward inhibitory interneurons and the temporal fidelity of input discrimination
    Karri Lamsa
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Neurosci 8:916-24. 2005
    ..We propose that Hebbian LTP at synapses driving disynaptic inhibition is necessary to maintain information processing without degradation during memory encoding...
  29. ncbi request reprint Epileptogenesis is associated with enhanced glutamatergic transmission in the perforant path
    Annalisa Scimemi
    Institute of Neurology, University College London, London, United Kingdom
    J Neurophysiol 95:1213-20. 2006
    ..Enhanced glutamatergic transmission and the emergence of cross-talk among perforant path-dentate granule cell synapses may contribute to lowering seizure threshold...
  30. pmc Electric fields due to synaptic currents sharpen excitatory transmission
    Sergiy Sylantyev
    Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK
    Science 319:1845-9. 2008
    ..Voltage-dependent temporal tuning of excitatory synaptic responses may thus contribute to signal integration in neural circuits...
  31. pmc GABAA receptors at hippocampal mossy fibers
    Arnaud Ruiz
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, WC1N 3BG, United Kingdom
    Neuron 39:961-73. 2003
    ..Antibodies against the alpha2 subunit of GABAA receptors stain mossy fibers. Axonal GABAA receptors thus play a potentially important role in tonic and activity-dependent heterosynaptic modulation of information flow to the hippocampus...
  32. doi request reprint Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing
    R W Labrum
    MRC Centre for Neuromuscular Diseases, Institute of Neurology, UCL, London WC1N 3BG, UK
    J Med Genet 46:786-91. 2009
    ..Standard DNA sequencing methods may miss large scale genetic rearrangements such as deletions and duplications. The authors investigated whether large scale genetic rearrangements in CACNA1A can cause EA2 and FHM1...
  33. doi request reprint Outwardly rectifying tonically active GABAA receptors in pyramidal cells modulate neuronal offset, not gain
    Ivan Pavlov
    UCL Institute of Neurology, University College London, London WC1 N3BG, United Kingdom
    J Neurosci 29:15341-50. 2009
    ....
  34. pmc Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy
    Sanjeev Rajakulendran
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, University College London, Institute of Neurology, London WC1N 3BG, UK
    J Physiol 588:1905-13. 2010
    ..Our data suggest that functional stratification of all variants, including common polymorphisms, rare variants and novel mutations, may provide new insights into the mechanisms of channelopathies...
  35. pmc Cholinergic axons modulate GABAergic signaling among hippocampal interneurons via postsynaptic alpha 7 nicotinic receptors
    Nicolas Wanaverbecq
    Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
    J Neurosci 27:5683-93. 2007
    ..This heterosynaptic modulation is amplified by blocking cholinesterases. These results reveal a novel mechanism by which cholinergic neurons modulate information processing in the hippocampus...
  36. pmc Presynaptic GABAA receptors enhance transmission and LTP induction at hippocampal mossy fiber synapses
    Arnaud Ruiz
    Institute of Neurology, University College London, London, UK
    Nat Neurosci 13:431-8. 2010
    ..Blocking GABA(A)Rs also interfered with the induction of long-term potentiation at mossy fiber-CA3 synapses. Presynaptic GABA(A)Rs therefore facilitate information flow to the hippocampus both directly and by enhancing LTP...
  37. ncbi request reprint Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
    A Jouvenceau
    University Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square, WC1N 3BG, London, UK
    Lancet 358:801-7. 2001
    ..INTERPRETATION: Human absence epilepsy can be associated with dysfunction of the brain P/Q-type voltage-gated Ca(2+) channel. The phenotype in this patient has striking parallels with the mouse absence epilepsy models...
  38. doi request reprint Computational sophistication at a single GABAergic connection
    Ivan Pavlov
    UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Neuron 63:716-8. 2009
    ..New data suggest that distinct effects on integration of excitatory inputs by cerebellar granule cells might result from different modes of signaling by individual interneurons...
  39. doi request reprint Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo
    Susan E Tomlinson
    Institute of Clinical Neurosciences, Royal Prince Alfred Hospital and University of Sydney, Sydney, Australia
    Clin Neurophysiol 120:1768-76. 2009
    ..The clinical, genetic and electrophysiological features of EA1 and EA2 are outlined, and a protocol for the assessment of these patients is proposed...
  40. pmc Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1
    Susan E Tomlinson
    Institute of Neurology, University College London, London WC1N 3BG, UK
    Brain 133:3530-40. 2010
    ..1 dysfunction in patients with episodic ataxia type 1. The simple 15 min test may be useful in diagnosis, since it can differentiate patients with episodic ataxia type 1 from normal controls with high sensitivity and specificity...
  41. ncbi request reprint Do mossy fibers release GABA?
    Matthew C Walker
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Epilepsia 43:196-202. 2002
    ..The purpose of this review is to present physiologic evidence of GABA release by mossy fibers and its modulation by epileptic activity...
  42. ncbi request reprint Another migraine gene
    Peter J Goadsby
    Headache Group, Institute of Neurology, UCL, London WC1N 3BG, UK
    Lancet 366:345-6. 2005
  43. ncbi request reprint Endogenous zinc inhibits GABA(A) receptors in a hippocampal pathway
    Arnaud Ruiz
    Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
    J Neurophysiol 91:1091-6. 2004
    ..granulosum of the dentate gyrus (to recruit mossy fibers). These results show for the first time that GABAergic IPSCs can be modulated by endogenous Zn(2+) and are consistent with GABA release at Zn(2+)-containing mossy fiber synapses...
  44. pmc Heterogeneity and specificity of presynaptic Ca2+ current modulation by mGluRs at individual hippocampal synapses
    Dmitri A Rusakov
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Cereb Cortex 14:748-58. 2004
    ..Glutamatergic modulation of GABA release from individual synapses thus depends on the co-occurrence of presynaptic N-type Ca2+ channels and the target cell-dependent expression of group III mGluRs...
  45. pmc Comment on "Role of NMDA receptor subtypes in governing the direction of hippocampal synaptic plasticity"
    Dmitri A Rusakov
    Institute of Neurology, University College LondonQueen SquareLondon WC1N 2BG, UK
    Science 305:1912; author reply. 2004
  46. ncbi request reprint Tonically active GABA A receptors: modulating gain and maintaining the tone
    Alexey Semyanov
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Trends Neurosci 27:262-9. 2004
    ....
  47. pmc NMDA receptor-dependent long-term potentiation in mouse hippocampal interneurons shows a unique dependence on Ca(2+)/calmodulin-dependent kinases
    Karri Lamsa
    Institute of Neurology, University College London, Queen Square, London, UK
    J Physiol 584:885-94. 2007
    ..The results suggest that non-alpha Ca(2+)/calmodulin-dependent kinases substitute for the alpha isoform in NMDA receptor-dependent LTP in interneurons...
  48. pmc Presynaptic fluctuations and release-independent depression
    Kirill E Volynski
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Neurosci 9:1091-3. 2006
    ..The relationship between this apparent depression and the interstimulus interval provides a window on the kinetics of state transitions of the release apparatus...
  49. ncbi request reprint The inherited episodic ataxias: how well do we understand the disease mechanisms?
    D M Kullmann
    University Department of Clinical Neurology, Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square London WC1N 3BG, UK
    Neuroscientist 7:80-8. 2001
    ..Indeed, a resolution of the mechanisms by which both diseases occur will represent a major milestone in understanding diseases of the CNS, in addition to opening the way to novel possible treatments...
  50. pmc Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
    E Matthews
    Medical Research Council Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
    Neurology 72:1544-7. 2009
    ..Several missense mutations of CACNA1S and SCN4A genes occur in hypokalemic periodic paralysis. These mutations affect arginine residues in the S4 voltage sensors of the channel. Approximately 20% of cases remain genetically undefined...
  51. pmc Analog modulation of mossy fiber transmission is uncoupled from changes in presynaptic Ca2+
    Ricardo Scott
    Institute of Neurology, University College London, London WC1N 3BG, United Kingdom
    J Neurosci 28:7765-73. 2008
    ..We conclude that depolarization-dependent modulation of transmission at these boutons does not rely on changes in presynaptic Ca2+...
  52. pmc Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1
    Ruth Rea
    University Department of Clinical Neurology, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK
    J Physiol 538:5-23. 2002
    ..Two other mutations associated with a severe phenotype (T226R, A242P) yielded an intermediate result. The phenotypic variability of KCNA1 mutations is reflected in a wide range of disorders of channel assembly, trafficking and kinetics...
  53. ncbi request reprint Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A
    P Imbrici
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, United Kingdom
    Neurology 65:944-6. 2005
    ..Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2...
  54. pmc Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release
    Joost H Heeroma
    Department of Clinical and Experimental Epilepsy, Department of Molecular Neuroscience and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK
    Dis Model Mech 2:612-9. 2009
    ..The results provide direct evidence that EA1 mutations increase neurotransmitter release, and provide an insight into mechanisms underlying the phenotypic differences that are associated with different mutations...
  55. ncbi request reprint Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia
    Ruth Rea
    Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Eur J Neurosci 16:186-96. 2002
    ..Thus, an effective loss of functional GlyRalpha1-mediated current underlies hyperekplexia in this family, whereas a partial loss is asymptomatic...
  56. doi request reprint Non-genomic effects of sex hormones on CLC-1 may contribute to gender differences in myotonia congenita
    Doreen Fialho
    MRC Centre for Neuromuscular Disease, UCL Institute of Neurology and National Hospital for Neurology, Queen Square, London WC1N 3BG, UK
    Neuromuscul Disord 18:869-72. 2008
    ..The effects of sex hormones are likely to be non-genomic because of their speed of onset and reversibility. These results suggest a possible mechanism to explain how the severity of myotonia congenita can be modulated by sex hormones...
  57. ncbi request reprint Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia
    Paola Imbrici
    Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG
    Brain 127:2682-92. 2004
    ..1 may have a central role in the pathogenesis of certain cases of primary generalized epilepsy, particularly when associated with ataxia, which may be wrongly ascribed to anticonvulsant medication...
  58. pmc N-methyl-D-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both sexes
    Sarosh R Irani
    Department of Clinical Neurology, L6 West Wing, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK
    Brain 133:1655-67. 2010
    ..Four patients, who only had temporal lobe epilepsy without oligoclonal bands, may represent restriction to the first stage...
  59. pmc Admission to neurological intensive care: who, when, and why?
    Robin S Howard
    The Batten Harris Medical Intensive Care Unit, The National Hospital for Neurology and Neurosurgery, London, UK
    J Neurol Neurosurg Psychiatry 74:iii2-9. 2003
  60. doi request reprint Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2
    Tracey D Graves
    Institute of Neurology, University College London, Queen Square, London, United Kingdom
    Neurobiol Dis 32:10-5. 2008
    ..1-mediated current. Because these mutations do not affect the alternate exon 37B, these findings reveal unexpected dependence of cerebellar function on intact exon 37A-containing Ca(V)2.1 channels...
  61. ncbi request reprint Episodic ataxia type 1: a neuronal potassium channelopathy
    Sanjeev Rajakulendran
    Department of Molecular Neuroscience, Centre for Neuromuscular Disease, Queen Square, London WC1N 3BG, United Kingdom
    Neurotherapeutics 4:258-66. 2007
    ..This review examines our current understanding of episodic ataxia type 1, focusing on its clinical and genetic features, pathophysiology, and treatment...
  62. doi request reprint Anti-N-methyl-D-aspartate receptor antibodies: a potentially treatable cause of encephalitis in the intensive care unit
    Gerard Davies
    National Hospital for Neurology and Neurosurgery, and Institute of Neurology, University College London, London, UK
    Crit Care Med 38:679-82. 2010
    ..To report the occurrence of an unusual neurologic disorder requiring admission to the intensive care unit...
  63. ncbi request reprint GABA and GABAA receptors at hippocampal mossy fibre synapses
    Linda Bergersen
    Anatomical Institute and the Centre for Molecular Biology and Neuroscience, University of Oslo, Blindern, Oslo, Norway
    Eur J Neurosci 18:931-41. 2003
    ..These results provide further evidence for GABA and glutamate cotransmission at mossy fibre synapses, although paired pre- and post-synaptic recordings will be required to determine the role of GABA at this unusual synapse...
  64. pmc Genetics of epilepsy
    Dimitri M Kullmann
    J Neurol Neurosurg Psychiatry 73:II32-5. 2002
  65. ncbi request reprint Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2
    Paola Imbrici
    University of Perugia School of Medicine, Department of Internal Medicine, Section of Human Physiology, Via del Giochetto, I 06126 Perugia, Italy
    Eur J Neurosci 24:3073-83. 2006
    ..Furthermore, EA1 mutations alter heteromeric channel availability which probably modifies the integration properties and firing patterns of neurones controlling cognitive processes and body movements...