Publications

Peer-Reviewed Publications

[21] 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

[20] 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

[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. (2021) Familial and genetic factors. Encyclopedia of Sleep and Circadian Rhythms. Elsevier Ltd.

[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.