Original Research

[23] Ellis CA, Copeland J, Velez I… Cuddapah VA…Fitzgerald MP, Goldberg EM, Helbig I. (2026). Genetic testing for familial epilepsies: Diagnostic yield and genetic findings. Epilepsia. PMID: 41795712

[22] Cuddapah VA*, Hsu CT, Valle Sirias F, Li Y, Shah HM, Saul C, Killiany S, Guevara C, Shon J, Yue Z, Gionet G, Putt ME, Sehgal A*. (2025) Sleep drive, not total sleep amount, increases seizure risk. Nature Communications. PMID: 40730814 * Corresponding author

[21] Cuddapah VA*, Chen D, Cho B, Moore R, Suri M, Safraou H, Tran-Mau-Them F, Wilson A, Odgis J, Rehman AU, Saunders C, Ganesan S, Jobanputra V, Scherer SW, Helbig I, and Sehgal A*. (2025). Rare variants in BMAL1 are associated with a neurodevelopmental syndrome. PNAS. PMID: 40720646 * Corresponding author

[20] Tserenlkham B, Takayama K, Zankov DP, Gallentine WB, Cuddapah VA, Cohen S, Sonoda K, Horie M, Ohno S. (2025) Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders. J Hum Genet. PMID: 41188451

[19] Spargo TP, Sands CF, Juan IR…Cuddapah VA… Al-Ramahi I, Tachmazidou I, Dhindsa RS. (2025) Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson’s disease. Cell Reports. PMID: 40056900

[18] Gokce-Samar Z, Vetro A, De Bellescize J…Cuddapah VA… Courchet J, Guerrini R, Lesca G. (2024) Molecular and Phenotypic Characterization of the RORB-Related Disorder. Neurology. 102:e207945. PMID: 38165337

[17] Haynes PR, Pyfrom ES, Li Y, Stein C, Cuddapah VA, Jacobs JA, Yue Z, Sehgal A. (2024) A neuron-glia lipid metabolic cycle couples daily sleep to mitochondrial homeostasis. Nature Neuroscience. PMID: 38360946

[16] Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC…Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA*. (2022) A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism. American Journal of Human Genetics 109:2253-2269. PMID: 36413998. *Corresponding author

[15] Zhu Z, Bolt E, Newmaster K, Osei-Bonsu W, Cohen S, Cuddapah VA, Gupta S, Paudel S, Samanta D, Dang LT, Carney PR, Naik S. (2022) SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy. Children (Basel) 9(10):1507. PMID: 36291443

[14] Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, Zackai E, Licht DJ, Falk MJ, Marsh ED. (2021) Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature. American Journal of Medical Genetics Part A. 185:1700-1711. PMID: 33751773

[13] Cuddapah VA, Matesanz S, Yum SW, Banwell B, and Stephenson D. (2020) Peripheral Neuropathy Caused by Vitamin B12 Deficiency. Practical Neurology.

[12] Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J. (2019) Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. American Journal of Medical Genetics Part A. PMID: 30892814

[11] Kahanovitch U*, Cuddapah VA*, Pacheco NL*, Holt LM, Mulkey DK, Percy AK, Olsen ML. (2018) MeCP2 Deficiency Leads to Loss of Glial Kir4.1. eNeuro. 5:0194-17.2018. PMID: 29464197 *Denotes shared first-authorship

[10] Cuddapah VA, Thompson M, Blount J, Li R, Guleria S, and Goyal M. (2015) Hemispherectomy for hemimegalencephaly due to tuberous sclerosis and a review of the literature. Pediatric Neurology. 53:452-5. PMID: 26231267

[9] Campbell SL, Robel S, Cuddapah VA, Robert S, Buckingham SC, Kahle KT, and Sontheimer H. (2014) GABAergic disinhibition and impaired KCC2 cotransporter activity underlie tumor-associated epilepsy. Glia 63:23-36. PMID: 25066727

[8] Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML. (2014) Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. Journal of Medical Genetics 51:152-8. PMID: 24399845 *Featured as the “Editor’s Choice” article.

[7] Cuddapah VA, Turner KL, Seifert S, Sontheimer H. (2013) Bradykinin-induced chemotaxis of human gliomas requires the activation of KCa3.1 and ClC-3. Journal of Neuroscience 33:1427-40. PMID: 23345219

[6] Cuddapah VA, Turner KL, Sontheimer H. (2012) Calcium entry via TRPC1 channels activates chloride currents in human glioma cells. Cell Calcium 53:187-94. PMID: 23261316

[5] McFerrin MB, Turner KL, Cuddapah VA, Sontheimer H. (2012) Differential Role of IK and BK Potassium Channels as Mediators of Intrinsic and Extrinsic Apoptotic Cell Death. Am J Physiol Cell Physiol 303:C1070-8. PMID: 22992678

[4] Cuddapah VA, Habela CW, Watkins S, Moore LS, Barclay TT, Sontheimer H. (2011) Kinase activation of ClC-3 accelerates cytoplasmic condensation during mitotic cell rounding. Am J Physiol Cell Physiol 302:C527-38. PMID:22049206

[3] Haas BR, Cuddapah VA, Watkins S, Rohn KJ, Dy TE, Sontheimer H. (2011) With-No-Lysine Kinase 3 (WNK3) Stimulates Glioma Invasion By Regulating Cell Volume. Am J Physiol Cell Physiol 301:C1150-60. PMID: 21813709

[2] Cuddapah VA and Sontheimer H (2010) Molecular interaction and functional regulation of ClC-3 by Ca2+/calmodulin-dependent protein kinase II (CaMKII) in human malignant glioma. Journal of Biological Chemistry 285:11188-96. PMID: 20139089

[1] Corey DM and Cuddapah VA (2008) Delayed Auditory Feedback Effects during Reading and Conversation Tasks: Gender Differences in Fluent Adults. Journal of Fluency Disorders 33:291-305. PMID: 19328981

 

Reviews and Commentaries

[6] Cuddapah VA and Goldberg EM. (2021) REVing up the brain: a mechanism driving seizure timing. Epilepsy Currents 22(1):64-65. PMID: 35233204

[5] Cuddapah VA, Zhang SL, Sehgal A. (2019) Regulation of the blood-brain barrier by circadian rhythms and sleep. Trends in Neuroscience. Review. PMID: 31253251

[4] Nwaobi SE, Cuddapah VA, Patterson KC, Randolph AC, and Olsen ML. (2016) The role of glial-specific Kir4.1 in normal and pathological states of the CNS. Acta Neuropathologica. Review. PMID: 26961251

[3] Cuddapah VA, Nwaobi SE, Percy AK, and Olsen ML. (2015) MECP2 in the regulation of neural activity: pathophysiological perspectives. Degenerative Neurological and Neuromuscular Disease. 5:103-116. Review. PMID: 32669918

[2] Cuddapah VA, Robel S, Watkins S, and Sontheimer H. (2014) A neurocentric perspective on glioma invasion. Nature Reviews Neuroscience 15:455-65. Review. PMID: 24946761

[1] Cuddapah VA, Sontheimer H. (2011) Ion channels and transporters in cancer. 2. Ion channels and the control of cancer cell migration. Am J Physiol Cell Physiol 301:C541-9. Review. PMID: 21543740

 

Book Chapters

[2] Cuddapah VA and Gehrman PR. (2023) Familial and genetic factors. Encyclopedia of Sleep and Circadian Rhythms. Second Edition. Edited by C Kushida. Elsevier Ltd. p26-33.

[1] Cuddapah VA and Sontheimer H. (2014) Novel therapeutic approaches to malignant gliomas. Pathological Potential of Neuroglia: Possible New Targets for Medical Intervention. Edited by V Parpura and A Verkhratsy. Springer Publishing. p315-350.