"Channelopathies" - Books

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Select item 44036681.

StatPearls [Internet].

Treasure Island (FL): StatPearls Publishing; 2026 Jan-.

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Select item 57048762.

Jasper's Basic Mechanisms of the Epilepsies. 5th edition.

Noebels JL, Avoli M, Rogawski MA, et al., editors.

New York: Oxford University Press; 2024.

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Select item 14589843.

GeneReviews® [Internet].

Adam MP, Bick S, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2026.

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Select item 23871564.

Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition.

Noebels JL, Avoli M, Rogawski MA, et al., editors.

Bethesda (MD): National Center for Biotechnology Information (US); 2012.

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Select item 52837825.

Unexplained Pediatric Deaths: Investigation, Certification, and Family Needs [Internet].

Bundock EA, Corey TS, Andrew TA, et al., editors.

San Diego (CA): Academic Forensic Pathology International; 2019.

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Select item 45804846.

SIDS Sudden Infant and Early Childhood Death: The Past, the Present and the Future.

Duncan JR, Byard RW, editors.

Adelaide (AU): University of Adelaide Press; 2018 May.

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Select item 49357867.

Dilated Cardiomyopathy: From Genetics to Clinical Management [Internet].

Sinagra G, Merlo M, Pinamonti B, editors.

Cham (CH): Springer; 2019.

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Select item 29069768.

TRP Channels.

Zhu MX, editor.

Boca Raton (FL): CRC Press/Taylor & Francis; 2011.

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Select item 14051749.

The Epilepsies: Seizures, Syndromes and Management.

Panayiotopoulos CP.

Oxfordshire (UK): Bladon Medical Publishing; 2005.

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Select item 539409410.

Effectiveness of genetic testing in determining the aetiology of epilepsy: Epilepsies in children, young people and adults: Evidence review C.

National Guideline Centre (UK).

London: National Institute for Health and Care Excellence (NICE); 2022 Apr. (NICE Guideline, No. 217.)

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Select item 141528011.

Madame Curie Bioscience Database [Internet].

Austin (TX): Landes Bioscience; 2000-2013.

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Select item 589978412.

Protecting Maternal Heart Health: Prevention and Care Before, During, and After Pregnancy.

National Academies of Sciences, Engineering, and Medicine; Center for Health, People, and Places; Health Care and Public Health Program Area; Committee on Clinical Preventive Services for Addressing Cardiovascular Disease Risk to Reduce Pregnancy-Related Deaths Among Women; Lieu TA, Geller A, editors.

Washington (DC): National Academies Press (US); 2026 Jun 25.

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Select item 462671413.

Calcium Entry Channels in Non-Excitable Cells.

Kozak JA, Putney JW Jr, editors.

Boca Raton (FL): CRC Press/Taylor & Francis; 2018.

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Select item 513138414.

A Laboratory Manual of Kidney Perfusion Techniques [Internet].

Schurek HJ, Neumann KH, Schweda F, et al.

Münster (Germany): University of Münster; 2017.

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Select item 449207015.

Neurobiology of TRP Channels.

Emir TLR, editor.

Boca Raton (FL): CRC Press/Taylor & Francis; 2017.

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Select item 567236816.

An Inventory of Rare Disease Registries in the Canadian Landscape: Environmental Scan [Internet].

Ottawa (ON): Canadian Agency for Drugs and Technologies in Health; 2024 Aug.

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Select item 162585217.

Neuroscience. 2nd edition.

Purves D, Augustine GJ, Fitzpatrick D, et al., editors.

Sunderland (MA): Sinauer Associates; 2001.

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Select item 533068418.

Epilepsy [Internet].

Czuczwar SJ, editor.

Brisbane (AU): Exon Publications; 2022 Apr 2.

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Select item 580262019.

Methylphenidate versus placebo for fatigue in patients with advanced cancer: the MePFAC randomised controlled trial.

Stone P, Minton O, Richardson A, et al.

Southampton (UK): National Institute for Health and Care Research; 2025 Jul. (Health Technology Assessment, No. 29.36.)

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Select item 409693620.

Strategies to Improve Cardiac Arrest Survival: A Time to Act.

Committee on the Treatment of Cardiac Arrest: Current Status and Future Directions; Board on Health Sciences Policy; Institute of Medicine; Graham R, McCoy MA, Schultz AM, editors.

Washington (DC): National Academies Press (US); 2015 Sep 29.

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Supplemental Content

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Figure 1The potassium channel gene family and epilepsy channelopathies

Family members are organized according to transmembrane structure. Genes within each family that are known to occur with epilepsy channelopathy mutations are boxed below in red. Shaker-related channels genes that encode non-conducting subunits (KCNF, KCNG, KCNS and KCNV channel genes) are not included in the diagram.

Potassium Channelopathies of Epilepsy.

Noebels JL, Avoli M, Rogawski MA, et al., editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.
Figure 72–5.

NBI-921352 increases seizure resistance in rodents. NBI-921352 reduces induced seizure incidence at concentrations more than 50-fold lower than those of three currently used NaV inhibitor ASMs (left). Similar brain concentrations of NBI-921352 are also effective in preventing electrically induced seizures in wild-type mice and rats (right).

Epileptogenic Channelopathies Guide Design of NBI-921352, a Highly Isoform-Selective Inhibitor of NaV1.6.

Noebels JL, Avoli M, Rogawski MA, et al., editors. Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024.
Figure 45–1.

The potassium channel gene family and epilepsy channelopathies. Families are classified based on the number of transmembrane domains. The illustration shows the family grouping and a rendering of a representative atomic structure for each group. Genes and the associated epilepsy described in the fourth edition of Jasper’s Basic Mechanisms of the Epilepsies by Brenner and Wilcox (2012) are shown in black. In blue, we show genes and the associated epilepsy syndromes identified since the fourth edition of Jasper’s Basic Mechanisms of the Epilepsies. The figure is adapted from Brenner and Wilcox (2012). Abbreviations: developmental and epileptic encephalopathy (DEE); facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome (FHEIG); autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); malignant migrating partial seizures of infancy (MMPSI); autism spectrum disorders (ASD); spinocerebellar ataxia (SCA). We note that benign febrile neonatal convulsions was a name used in 2012. The current name for this disorder is self-limited (familial) neonatal epilepsy (SLFNE).

Potassium Channels in Genetic Epilepsy: A Functional Perspective.

Noebels JL, Avoli M, Rogawski MA, et al., editors. Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024.
Figure 72–1.

NaV isoforms have diverse cellular and subcellular expression patterns. Schematic showing Na_V localization. Na_V1.1 predominates in inhibitory interneurons. Na_V1.2 and Na_V1.6 are more prevalent in excitatory glutamatergic pyramidal neurons. Na_V1.2 is highly expressed in the dendrites and proximal axon initial segment of pyramidal neurons. Na_V1.6 is most highly expressed in the distal axon initial segment and the nodes of Ranvier.

Epileptogenic Channelopathies Guide Design of NBI-921352, a Highly Isoform-Selective Inhibitor of NaV1.6.

Noebels JL, Avoli M, Rogawski MA, et al., editors. Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024.