• Publications
  • Influence
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Generalized epilepsy with febrile seizures plus type 2 (GEFS+2, MIM 604233) is an autosomal dominant disorder characterized by febrile seizures in children and afebrile seizures in adults. WeExpand
  • 893
  • 35
Nomenclature of Voltage-Gated Sodium Channels
Voltage-gated Ca2+ channels mediate calcium influx in response to membrane depolarization and regulate intracellular processes such as contraction, secretion, neurotransmission, and gene expression.Expand
  • 1,337
  • 29
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of FIG4 in 2% (9/473) ofExpand
  • 320
  • 25
  • Open Access
Altered Subthreshold Sodium Currents and Disrupted Firing Patterns in Purkinje Neurons of Scn8a Mutant Mice
Sodium currents and action potentials were characterized in Purkinje neurons from ataxic mice lacking expression of the sodium channel Scn8a. Peak transient sodium current was approximately 60% ofExpand
  • 352
  • 24
D1/D5 Dopamine Receptor Activation Differentially Modulates Rapidly Inactivating and Persistent Sodium Currents in Prefrontal Cortex Pyramidal Neurons
Dopamine (DA) is a well established modulator of prefrontal cortex (PFC) function, yet the cellular mechanisms by which DA exerts its effects in this region are controversial. A major point ofExpand
  • 206
  • 22
  • Open Access
Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice
The mouse mutant mnd2 (motor neuron degeneration 2) exhibits muscle wasting, neurodegeneration, involution of the spleen and thymus, and death by 40 days of age. Degeneration of striatal neurons,Expand
  • 366
  • 21
  • Open Access
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.
Individuals with severe, sporadic disorders of infantile onset represent an important class of disease for which discovery of the underlying genetic architecture is not amenable to traditionalExpand
  • 274
  • 19
  • Open Access
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P
Mutations that cause defects in levels of the signaling lipid phosphatidylinositol 3,5-bisphosphate [PI(3,5)P2] lead to profound neurodegeneration in mice. Moreover, mutations in human FIG4 predictedExpand
  • 151
  • 19
Functional Analysis of the Mouse Scn8a Sodium Channel
The mouse Scn8a sodium channel and its ortholog Na6 in the rat are abundantly expressed in the CNS. Mutations in mouse Scn8a result in neurological disorders, including paralysis, ataxia, andExpand
  • 237
  • 17
  • Open Access
Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’
The mouse neurological mutant ‘motor endplate disease’ (med) is characterized by early onset progressive paralysis of the hind limbs, severe muscle atrophy, degeneration of Purkinje cells andExpand
  • 283
  • 17