Everything about SCN3A

🧭 Start here: a 6-step reading path

1. Read the overview: SCN3AA 5-minute orientation
2. Skim a recent paper: Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathyInfluential work since 2022
3. Pick up a classic book: Strukturelle und kristallphysikalische Charakterisierung der komplexen Thiosulfate vom Typ A₉[B(S₂O₃)₄]X₂The most-reprinted book on the subject
4. Read the landmark paper: Sodium channels SCN1A, SCN2A and SCN3A in familial autismCited 258 times
5. Go sideways: SCN1AA closely related topic
6. Go sideways: SCN2AA closely related topic

🏆 Landmark papers (most cited)

• Sodium channels SCN1A, SCN2A and SCN3A in familial autism

  L A Weiss, A Escayg, J A Kearney · 2003 · Molecular Psychiatry · 258 citations

• Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

  Richard S. Smith, Connor J. Kenny, Vijay Ganesh · 2018 · Neuron · 159 citations

• Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

  Katherine D. Holland, Jennifer A. Kearney, Tracy A. Glauser · 2008 · Neuroscience Letters · 132 citations

• Mutations in SCN3A cause early infantile epileptic encephalopathy

  Tariq Zaman, Ingo Helbig, Ivana Babić Božović · 2018 · Annals of Neurology · 102 citations

• Na+ current properties in islet α‐ and β‐cells reflect cell‐specific Scn3a and Scn9a expression

  Quan Zhang, Margarita V. Chibalina, Martin Bengtsson · 2014 · The Journal of Physiology · 98 citations

• SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

  Tariq Zaman, Katherine L. Helbig, Jérôme Clatot · 2020 · Annals of Neurology · 93 citations

• Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression

  Patrick Kwan, Wai Sang Poon, Ho-Keung Ng · 2008 · Pharmacogenetics and Genomics · 92 citations

• Novel SCN3A variants associated with focal epilepsy in children

  Carlos G. Vanoye, Christina A. Gurnett, Katherine D. Holland · 2014 · Neurobiology of Disease · 86 citations

🆕 Influential since 2022

• Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy

  Guojie Qu, Julie P Merchant, Jérôme Clatot · 2023 · Brain · 19 citations

• De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity

  Katrine M. Johannesen, Elena Gardella, Philip K. Ahring · 2022 · European Journal of Medical Genetics · 4 citations

• Toward precision medicine in SCN3A variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects

  Peng-Yu Wang, Jia-Xing Zhao, Wen-Hui Liu · 2026 · Frontiers in Neurology · 3 citations

• Structural brain MRI abnormalities in SCN1A-, SCN2A-, SCN3A-, and SCN8A-related epilepsies: a cohort study

  Daewoong Ahn, Daehyun Kim, Hyeon Deok Sang · 2026 · Frontiers in Neurology · 2 citations

• Neurodevelopmental disorder in a patient with HMBS and SCN3A variants—A possibly blended phenotype further delineating autosomal recessive HMBS related disease

  Kłaniewska M, Rydzanicz M, Bladowska J · 2024 · American Journal of Medical Genetics Part A · 2 citations

📚 Books worth reading

• 📕Strukturelle und kristallphysikalische Charakterisierung der komplexen Thiosulfate vom Typ A₉[B(S₂O₃)₄]X₂Peter Held · 1994

Ranked by number of editions on Open Library, a rough measure of how lasting a book is.

🔗 Related topics

• SCN1A Sodium channel protein type 1 subunit alpha (SCN1A), is a protein which in humans is encoded by the SCN1A gene. The SCN1A gene is located on chromosome…
• SCN2A Sodium channel protein type 2 subunit alpha, also known as Nav1.2, is an ion channel protein encoded by the SCN2A gene in humans. It represents one member…
• Generalized epilepsy with febrile seizures plus Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy…
• SCN1B Sodium channel subunit beta-1 is a protein that in humans is encoded by the SCN1B gene. Voltage-gated sodium channels are essential for the generation…
• CACNB4 Voltage-dependent L-type calcium channel subunit beta-4 is a protein that in humans is encoded by the CACNB4 gene. This gene encodes a member of the beta…
• Sodium channel Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's membrane. They belong to the superfamily…
• SCN3B Sodium channel subunit beta-3 is a protein that in humans is encoded by the SCN3B gene. Two alternatively spliced variants, encoding the same protein,…
• CACNB1 Voltage-dependent L-type calcium channel subunit beta-1 is a protein that in humans is encoded by the CACNB1 gene. The protein encoded by this gene belongs…