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Author Details

John J Millichap
Feinberg School of Medicine, Northwestern University
1996
110
24
PMIDPaper TitleJournal TitlePublished Year
36865317Epilepsy-associated <i>SCN2A</i> (Na <sub>V</sub> 1.2) Variants Exhibit Diverse and Complex Functional Properties.bioRxiv2023
37551667Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.Genet Med2023
37578743Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.J Gen Physiol2023
37321047Proposed anti-seizure medication combinations with rufinamide in the treatment of Lennox-Gastaut syndrome: Narrative review and expert opinion.Seizure2023
35044272Comparison of Cosyntropin, Vigabatrin, and Combination Therapy in New-Onset Infantile Spasms in a Prospective Randomized Trial.J Child Neurol2022
35773235mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.Brain2022
35583973Human <i>KCNQ5</i> de novo mutations underlie epilepsy and intellectual disability.J Neurophysiol2022
35474188Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.Epilepsia2022
33424196<i>Pediatric Neurology Briefs</i>: Year in Review.Pediatr Neurol Briefs2021
33681646Capturing seizures in clinical trials of antiseizure medications for <i>KCNQ2</i>-DEE.Epilepsia Open2021
33544076Dyshomeostatic modulation of Ca<sup>2+</sup>-activated K<sup>+</sup> channels in a human neuronal model of KCNQ2 encephalopathy.Elife2021
32267060Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.Am J Med Genet A2020
32094280Resident &amp; Fellow Rounds.Neurology2020
32750235Functional and pharmacological evaluation of a novel SCN2A variant linked to early-onset epilepsy.Ann Clin Transl Neurol2020
32109977<i>Pediatric Neurology Briefs</i>: Year in Review.Pediatr Neurol Briefs2020
32376980Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.Genet Med2020
31133562Resident &amp; Fellow Rounds.Neurology2019
31929712<i>Pediatric Neurology Briefs</i>: Year in Review.Pediatr Neurol Briefs2019
31659131Resident &amp; Fellow Rounds.Neurology2019
31767656Resident &amp; Fellow Rounds.Neurology2019
31217425The ketogenic diet in children 3 years of age or younger: a 10-year single-center experience.Sci Rep2019
31560846Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.Ann Clin Transl Neurol2019
31440721Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.Epilepsia Open2019
31358670Resident &amp; Fellow Rounds.Neurology2019
31301155Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.Hum Mutat2019
31181428Immediate outcomes in early life epilepsy: A contemporary account.Epilepsy Behav2019
31551268Resident &amp; Fellow Rounds.Neurology2019
31600826Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.Ann Neurol2019
31451587Resident &amp; Fellow Rounds.Neurology2019
30982612Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.Am J Hum Genet2019
30804056Resident &amp; Fellow Rounds.Neurology2019
31036571Resident &amp; Fellow Rounds.Neurology2019
30910940Resident &amp; Fellow Rounds.Neurology2019
29315614Defining the phenotypic spectrum of SLC6A1 mutations.Epilepsia2018
29866938Reader response: Quinidine-associated skin discoloration in <i>KCNT1</i>-associated pediatric epilepsy.Neurology2018
29807917Resident &amp; Fellow Rounds.Neurology2018
30150265Resident &amp; Fellow Rounds.Neurology2018
30249670Resident &amp; Fellow Rounds.Neurology2018
30008540Pediatric Neurology Briefs: Year in Review.Pediatr Neurol Briefs2018
30061340Resident &amp; Fellow Rounds.Neurology2018
30373921Resident &amp; Fellow Rounds.Neurology2018
30478069Resident &amp; Fellow Rounds.Neurology2018
29691040Progress in Understanding and Treating SCN2A-Mediated Disorders.Trends Neurosci2018
29518120Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms.PLoS One2018
29686125Resident &amp; Fellow Rounds.Neurology2018
29435578Comparative Effectiveness of Levetiracetam vs Phenobarbital for Infantile Epilepsy.JAMA Pediatr2018
29336036The incidence and significance of periictal apnea in epileptic seizures.Epilepsia2018
29284649Resident &amp; Fellow Rounds.Neurology2018
27861786Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.Epilepsia2017
28410084Clinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations.J Pediatr2017
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Collaborators

Douglas R Nordli
University of Chicago
Co-authored papers 10
Elaine C Wirrell
Mayo Clinic
Co-authored papers 8
Alfred L George
Northwestern University Feinberg School of Medicine
Co-authored papers 7
Sookyong Koh
Children's Hospital Medical Center, University of Nebraska
Co-authored papers 7
William D Gaillard
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Tobias Loddenkemper
Harvard Medical School
Co-authored papers 6
Zachary M Grinspan
Cornell University and New York-Presbyterian Hospital
Co-authored papers 6
Cynthia V Stack
Ann and Robert H. Lurie Children's Hospital of Chicago
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Carlos G Vanoye
Feinberg School of Medicine, Northwestern University
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Eric H Kossoff
Johns Hopkins Hospital
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Linda Laux
Northwestern University Feinberg School of Medicine
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Charu Venkatesan
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Catherine J Chu
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Mitchell S V Elkind
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Center for Clinical Excellence, Nationwide Children's Hospital
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Joshua L Goldstein
Children's Memorial Hospital and Northwestern University Feinberg School of Medicine
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Russell P Saneto
4Center for Integrated Brain Research, Seattle Children's Hospital
Co-authored papers 3
William B Dobyns
University of Minnesota
Co-authored papers 3
Ingrid E Scheffer
Co-authored papers 2
Alexandra Shaw
Co-authored papers 2
Rebecca Truty
Invitae Corporation
Co-authored papers 2
Orrin Devinsky
New York University Langone Medical Center
Co-authored papers 2
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 2
M Wainwright
Seattle Children's Hospital, University of Washington
Co-authored papers 2
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Joseph G Gleeson
University of California
Co-authored papers 1
Phillip L Pearl
Boston Children's Hospital
Co-authored papers 1
Petter Str??mme
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Release 1.2