Aceti M et al. (2015). Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly. Biological psychiatry. 77 [PubMed]
Altmüller J et al. (2016). A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product. Biological chemistry. 397 [PubMed]
Anastasiades PG et al. (2016). GABAergic interneurons form transient layer-specific circuits in early postnatal neocortex. Nature communications. 7 [PubMed]
Bender KJ, Trussell LO. (2012). The physiology of the axon initial segment. Annual review of neuroscience. 35 [PubMed]
Boiko T et al. (2003). Functional specialization of the axon initial segment by isoform-specific sodium channel targeting. The Journal of neuroscience : the official journal of the Society for Neuroscience. 23 [PubMed]
Catterall WA, Kalume F, Oakley JC. (2010). NaV1.1 channels and epilepsy. The Journal of physiology. 588 [PubMed]
Chang J, Gilman SR, Chiang AH, Sanders SJ, Vitkup D. (2015). Genotype to phenotype relationships in autism spectrum disorders. Nature neuroscience. 18 [PubMed]
De Rubeis S et al. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515 [PubMed]
Depienne C et al. (2009). Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. Journal of medical genetics. 46 [PubMed]
Feldman DE. (2012). The spike-timing dependence of plasticity. Neuron. 75 [PubMed]
Gazina EV et al. (2015). 'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour. Human molecular genetics. 24 [PubMed]
Hallermann S, de Kock CP, Stuart GJ, Kole MH. (2012). State and location dependence of action potential metabolic cost in cortical pyramidal neurons. Nature neuroscience. 15 [PubMed]
Howell KB et al. (2015). SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 85 [PubMed]
Hu W et al. (2009). Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation. Nature neuroscience. 12 [PubMed]
Iossifov I et al. (2014). The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515 [PubMed]
Kamiya K et al. (2004). A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. The Journal of neuroscience : the official journal of the Society for Neuroscience. 24 [PubMed]
Kole MH et al. (2008). Action potential generation requires a high sodium channel density in the axon initial segment. Nature neuroscience. 11 [PubMed]
Kole MH, Stuart GJ. (2012). Signal processing in the axon initial segment. Neuron. 73 [PubMed]
Lauxmann S et al. (2013). An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current. Epilepsia. 54 [PubMed]
Lek M et al. (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536 [PubMed]
Li T et al. (2014). Action potential initiation in neocortical inhibitory interneurons. PLoS biology. 12 [PubMed]
Liao Y et al. (2010). Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain : a journal of neurology. 133 [PubMed]
Martínez-Hernández J et al. (2013). Polarised localisation of the voltage-gated sodium channel Na(v)1.2 in cerebellar granule cells. Cerebellum (London, England). 12 [PubMed]
Misra SN, Kahlig KM, George AL. (2008). Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. Epilepsia. 49 [PubMed]
Naundorf B, Wolf F, Volgushev M. (2006). Unique features of action potential initiation in cortical neurons. Nature. 440 [PubMed]
Nelson SB, Valakh V. (2015). Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders. Neuron. 87 [PubMed]
Noebels J. (2015). Pathway-driven discovery of epilepsy genes. Nature neuroscience. 18 [PubMed]
Ogiwara I et al. (2009). De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology. 73 [PubMed]
Ogiwara I et al. (2007). Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. The Journal of neuroscience : the official journal of the Society for Neuroscience. 27 [PubMed]
Osorio N et al. (2005). Differential targeting and functional specialization of sodium channels in cultured cerebellar granule cells. The Journal of physiology. 569 [PubMed]
Petrovski S et al. (2015). The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity. PLoS genetics. 11 [PubMed]
Philpot BD, Thompson CE, Franco L, Williams CA. (2011). Angelman syndrome: advancing the research frontier of neurodevelopmental disorders. Journal of neurodevelopmental disorders. 3 [PubMed]
Planells-Cases R et al. (2000). Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice. Biophysical journal. 78 [PubMed]
Rees E et al. (2014). Analysis of copy number variations at 15 schizophrenia-associated loci. The British journal of psychiatry : the journal of mental science. 204 [PubMed]
Saha RN, Dudek SM. (2008). Action potentials: to the nucleus and beyond. Experimental biology and medicine (Maywood, N.J.). 233 [PubMed]
Sanders SJ. (2015). First glimpses of the neurobiology of autism spectrum disorder. Current opinion in genetics & development. 33 [PubMed]
Sanders SJ et al. (2015). Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87 [PubMed]
Sanders SJ et al. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 485 [PubMed]
Scalmani P et al. (2006). Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures. The Journal of neuroscience : the official journal of the Society for Neuroscience. 26 [PubMed]
Schwarz N et al. (2016). Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. Journal of neurology. 263 [PubMed]
Shepherd GM, Katz DM. (2011). Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met. Current opinion in neurobiology. 21 [PubMed]
Stühmer W, Methfessel C, Sakmann B, Noda M, Numa S. (1987). Patch clamp characterization of sodium channels expressed from rat brain cDNA. European biophysics journal : EBJ. 14 [PubMed]
Sugawara T et al. (2001). A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proceedings of the National Academy of Sciences of the United States of America. 98 [PubMed]
Tian C, Wang K, Ke W, Guo H, Shu Y. (2014). Molecular identity of axonal sodium channels in human cortical pyramidal cells. Frontiers in cellular neuroscience. 8 [PubMed]
Tuncdemir SN et al. (2016). Early Somatostatin Interneuron Connectivity Mediates the Maturation of Deep Layer Cortical Circuits. Neuron. 89 [PubMed]
Willsey AJ et al. (2013). Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 155 [PubMed]
Xu R et al. (2007). A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. Molecular and cellular neurosciences. 35 [PubMed]
Xu X, Wells AB, O'Brien DR, Nehorai A, Dougherty JD. (2014). Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders. The Journal of neuroscience : the official journal of the Society for Neuroscience. 34 [PubMed]
Yamagishi T et al. (2009). Novel molecular determinants in the pore region of sodium channels regulate local anesthetic binding. Molecular pharmacology. 76 [PubMed]
Zhu G, Zhang Y, Xu H, Jiang C. (1998). Identification of endogenous outward currents in the human embryonic kidney (HEK 293) cell line. Journal of neuroscience methods. 81 [PubMed]
Barlow BSM, Longtin A, Joós B. (2024). Impact on backpropagation of the spatial heterogeneity of sodium channel kinetics in the axon initial segment. PLoS computational biology. 20 [PubMed]
Ben-Shalom R et al. (2022). NeuroGPU: Accelerating multi-compartment, biophysically detailed neuron simulations on GPUs Journal of neuroscience methods. 366 [PubMed]
Spratt PWE et al. (2021). Paradoxical hyperexcitability from NaV1.2 sodium channel loss in neocortical pyramidal cells Cell reports. 36 [PubMed]