Everything about CACNB4

🧭 Start here: a 6-step reading path

1. Read the overview: CACNB4A 5-minute orientation
2. Skim a recent paper: Impacts of CACNB4 overexpression on dendritic spine density in both sexes and relevance to schizophreniaInfluential work since 2022
3. Read the landmark paper: Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic AtaxiaCited 369 times
4. Go sideways: CACNA1AA closely related topic
5. Go sideways: CACNB3A closely related topic

🏆 Landmark papers (most cited)

• Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia

  Andrew Escayg, Michel De Waard, David D. Lee · 2000 · The American Journal of Human Genetics · 369 citations

• Excitatory But Not Inhibitory Synaptic Transmission Is Reduced in Lethargic (Cacnb4lh) and Tottering (Cacna1atg) Mouse Thalami

  Sarah J. Caddick, Chunsheng Wang, Colin F. Fletcher · 1999 · Journal of Neurophysiology · 106 citations

• Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy

  Abir Tadmouri, Shigeki Kiyonaka, Maud Barbado · 2012 · The EMBO Journal · 75 citations

• Migrainous Vertigo: Mutation Analysis of the Candidate Genes CACNA1A, ATP1A2, SCN1A, and CACNB4

  Michael Von Brevern, Nga Ta, Anupama Shankar · 2006 · Headache: The Journal of Head and Face Pain · 67 citations

• A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy

  Iori Ohmori, Mamoru Ouchida, Takafumi Miki · 2008 · Neurobiology of Disease · 51 citations

• A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

  Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals · 2020 · PLOS Genetics · 33 citations

• Ca 2+ channel-independent requirement for MAGUK family CACNB4 genes in initiation of zebrafish epiboly

  A. M. Ebert, C. A. McAnelly, A. Srinivasan · 2008 · Proceedings of the National Academy of Sciences · 31 citations

• Nuclear life of the voltage-gated Cacnb4 subunit and its role in gene transcription regulation

  Michel Ronjat, Shigeki Kiyonaka, Maud Barbado · 2013 · Channels · 30 citations

🆕 Influential since 2022

• Impacts of CACNB4 overexpression on dendritic spine density in both sexes and relevance to schizophrenia

  Emily M. Parker, Nathan L. Kindja, Rebecca A. DeGiosio · 2024 · Translational Psychiatry · 9 citations

• Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy

  Muhammad Imran Naseer, Angham Abdulrhman Abdulkareem, Mahmood Rasool · 2022 · Frontiers in Pediatrics · 7 citations

• CACNB4 attenuates cardiac dysfunction by regulating calcium and ATP levels via interaction with RyR2

  Shan Jiang, Ming Hong, Jingbo Zhang · 2025 · European Journal of Medical Research · 1 citations

• Integrative Human Genomic and Pharmacological Analyses Identify CACNB4 as a Druggable Target for Periodontitis

  Yixuan Jiang, Zhengyu Guan, Xiu Yao · 2026 · Journal of Periodontal Research · 1 citations

• Homozygous missense variants in CACNB4 underlie autosomal recessive epilepsy in two unrelated Pakistani consanguineous families

  Anwar Ullah, Fazl Ullah, Irfan Ullah · 2026 · Seizure: European Journal of Epilepsy · 0 citations

📚 Books worth reading

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🔗 Related topics

• CACNA1A Cav2.1, also known as P/Q voltage-dependent calcium channel, is a calcium channel that in humans is encoded by the CACNA1A gene. Cav2.1 is highly expressed…
• CACNB3 Voltage-dependent L-type calcium channel subunit beta-3 is a protein that in humans is encoded by the CACNB3 gene. Voltage-dependent calcium channel GRCh38:…
• CACNB2 Voltage-dependent L-type calcium channel subunit beta-2 is a protein that in humans is encoded by the CACNB2 gene. Mutation in the CACNB2 gene are associated…
• 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…
• KCNMB2 Calcium-activated potassium channel subunit beta-2 is a protein that in humans is encoded by the KCNMB2 gene. Big Potassium (BK) channels are large conductance…
• CACNA2D1 Voltage-dependent calcium channel subunit alpha-2/delta-1 is a protein that in humans is encoded by the CACNA2D1 gene. The CACNA2D1 gene is located on…
• CACNG3 Voltage-dependent calcium channel gamma-3 subunit is a protein that in humans is encoded by the CACNG3 gene. L-type calcium channels are composed of five…
• KCNMB4 Calcium-activated potassium channel subunit beta-4 is a protein that in humans is encoded by the KCNMB4 gene. MaxiK channels are large conductance, voltage…