Heather C. Mefford, MD, PhD

Howell KB, Freeman JL, Mackay MT, Fahey MC, Archer J, Berkovic SF, Chan E, Dabscheck G, Eggers S, Hayman M, Holberton J, Hunt RW, Jacobs SE, Kornberg AJ, Leventer RJ, Mandelstam S, McMahon JM, Mefford HC, Panetta J, Riseley J, Rodriguez-Casero V, Ryan MM, Schneider AL, Smith LJ, Stark Z, Wong F, Yiu EM, Scheffer IE, Harvey AS. The severe epilepsy syndromes of infancy: a population-based study. Epilepsia 2021. (Epub ahead of print) PMID 33475165

Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Klöckner C, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures and hypotonia. Genet Med 2021 (Epub ahead of print) PMID 33473207

Schneider AL, Myers CT, Muir AM, Calvert S, Basinger A, Perry MS, Rodan L, Helbig KL, Chambers C, Gorman KM, King MD, Donkervoort S, Soldatos A, Bönnemann CG, Spataro N, Gabau E, Arellano M, Cappuccio G, Brunetti-Pierri N, Rossignol E, Hamdan FF, Michaud JL, Balak C, Mefford HC, Scheffer IE. FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. Epilepsia 62:e13-21, 2020. PMID 33280099

Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium, Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet in Med 2020. [Epub ahead of print] PMID 33299146

Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC; Undiagnosed Diseases Network, Wangler MF. Missense Variants in CTNNB1 Can Be Associated with Vitreoretinopathy - Seven New Cases of CTNNB1-Associated Neurodevelopmental Disorder Including a Previously Unreported Retinal Phenotype. Molec Genet & Genomic Med 2020. [Epub ahead of print] PMID 33350591

Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. NEXMIF-encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genet Med 2020. [Epub ahead of print] PMID 33144681

Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia 61:2461-73, 2020. PMID 32954514

Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tranct malformations. Am J Hum Genet 107:727-42, 2020. PMID 32891193

Carvil GL, Mefford HC. Poison Exons in Neurodevelopment and Disease. Curr Op Genet Dev 65:98-102, 2020. PMID 32615329

Freed AS, Clowes Candadai SV, Sikes MC, Thies J, Byers HM, Dines JN, Ndugga-Kabuye MK, Smith MB, Fogus K, Mefford HC, Lam C, Adam MP, Sun A, McGuire JK, DiGeronimo R, Dipple KM, Deutsch GH, Billimoria ZC, Bennett JT. The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children. J Peds S0022-3476(20)30721-6, 2020. PMID 32553838

Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjaersgaard L, Larsen MJ, Rump P, Lohner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC.  Bi-allelic loss-of-function variants in NUP188 cause a recognizable syndrome characterized by neurologic, ocular and cardiac abnormalities. Am J Hum Genet 106:623-31, 2020. PMID 32275884, PMCID PMC7212259

Carvill GL, Helbig KL, Myers CT, Scala M, Huether R, Lewis S, Kruer TN, Guida BS, Bakhtiari S, Sebe J, Tang S, Stickney H, Oktay SU, Bhandiwad AA, Ramsey K, Narayanan V, Feyma T, Rohena LO, Accogli A, Severino M, Hollingsworth G, Gill D, Depienne C, Nava C, Sadleir LG, Caruso PA, Lin AE, Jansen FE, Koeleman B, Brilstra E, Willemsen MH, Kleefstra T, Sa J, Mathieu ML, Perrin L, Lesca G, Striano P, Casari G, Scheffer IE, Raible D, Sattlegger E, Capra V, Padilla-Lopez S^, Mefford HC^, Kruer MC^. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Hum Mut 41:1263-79, 2020. PMID 32196822, PMCID PMC7292794

Hebbar M, Mefford HC^. Recent advances in epilepsy genomics and genetic testing. F1000Res 2020. PMID 32201576, PMCID: PMC7076331

Sadleir LG, de Valles-Ibáñez G, King C, Coleman M, Mossman S, Paterson S, Nguyen J, Berkovic SF, Mullen S, Bahlo M, Hildebrand MS, Mefford HC, Scheffer IE. Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy. Epilepsia 61:e23-9, 2020. PMID 32162308

Tsai M-H, Muir AM, Wong-Jin W, Kang Y-N, Yang K-C, Chao N-H, Wu M-F, Chang Y-C, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan W-L, Su S-C, Chung W-H, Almanza Fuerte EP, Mehaffey MG, UW CMG, Ng C-C, Chan C-K, Lim K-S, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai J-W^, Mefford HC^. Pathogenic variants in CEP85L cause sporadic and familial posterior predominant lissencephaly. Neuron 106:237-45.e8, 2020. PMID 32097630

Traynelis SF, Dlugos D, Henshall D, Mefford HC, Rogawski MA, Staley KJ, Dacks PA, Whittemore V, Poduri A, NINDS/AES Epilepsy Research Benchmark Stewards. Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects. Epilepsy Curr 20(1_suppl):23S–30S, 2020. PMID 31965829, PMCID PMC7031805

Sadleir LG, Kolc KL, King C, Mefford HC, Dale RC, Gecz J, Scheffer IE. Levetiracetam efficacy in PCDH19 girls clustering epilepsy. Eur J Paediatr Neurol 24:142-47, 2020. PMID 31928905

Desprairies C, Valence S, Maurey H, Helal SI, Weckhuysen S, Soliman H, Mefford HC, Spentchian M, Héron D, Leguern E, Nava C, Bouilleret V, Moretti R, Mignot C. Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene. Clin Genet 97:477-82, 2019. PMID 31883110

Scheffer IE, Boysen KE, Schneider AL, Myers CT, Mehaffey MG, Rochtus AM, Yuen YP, Ronen GM, Chak WK, Gill D, Poduri A, Mefford HC^ (2019) BRAT1 encephalopathy: an autosomal recessive cause of epilepsy of infancy with migrating partial seizures. Dev Med Child Neurol. [Epub ahead of print] PMID 31868227

Ellis CA, Berkovic SF, Epistein MP, Ottman R, Epi4k Consortium. The “maternal effect” on epilepsy risk: analysis of familial epilepsies and reassessment of prior evidence. Ann Neurol 2019. [Epub ahead of print] PMID 31637767

Poke G, King C, Muir A, de Valles-Ibáñez G, Germano M, Moura de Souza CF, Fung J, Chung B, Fung CW, Mignot C, Ilea A, Keren B, Vermersch AI, Davis S, Stanley T, Moharir M, Kannu P, Shao Z, Malerba N, Merla G, Mefford HC, Scheffer IE, Sadleir LG. The epileptology of GNB5 encephalopathy. Epilepsia 60:e121-7, 2019. PMID 31631344

Epi4K Consortium. Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies. Epilepsia 60:2194-2203, 2019. PMID 31625138

Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D, Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Genetic landscape of epilepsy of infancy with migrating seizures. Ann Neurol 86:821-31, 2019. PMID 31618474

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Comm 10:4679, 2019. PMID 31616000, PMCID PMC6794285

Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, de Villemeur TB, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mut 41:69-80, 2019. PMID 31513310

Beighley JS, Hudac CM, Arnett AB, Peterson JL, Gerdts J, Wallace AS, Mefford HC, Hoekzema K, Turner TN, O'Roak BJ, Eichler EE, Bernier RA, Clinical phenotypes of carriers of mutations in CHD8 or its conserved target genes. Biol Psychiatry 87:123-31, 2019. PMID 31526516

Muir AM, Myers CT, Nguyen NT, Saykally J, Craiu D, De Jonghe P, Helbig I, Hoffman D, Guerrini R, Lehesjoki AE, Marini C, Moller RS, Serratosa J, Sterbova K, Striano P, von Spiczak S, EuroEPINOMICS-RES NLES working group, Weckhuysen S, Mefford HC^. Genetic heterogeneity in infantile spasms. Epi Res 156:106181, 2019. PMID 31394400, PMCID PMC6814289

Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun 10:3094, 2019. PMID 31300657, PMCID PMC6626132

Ye Z, McQuillan L, Poduri A, Green TE, Matsumoto N, Mefford HC, Scheffer IE, Berkovic SF, Hildebrand MS. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies. Epilepsy Res 155:106161, 2019. PMID 31295639