Select Publications

Journal articles

Innes EA; Marne FAL; Macintosh R; Nevin SM; Briggs NE; Vivekanandarajah S; Webster RI; Sachdev RK; Bye AME, 2024, 'Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset', Seizure, 115, pp. 1 - 13, http://dx.doi.org/10.1016/j.seizure.2023.12.013

Robertson EG; Kelada L; Best S; Goranitis I; Pierce K; Roberts NJ; Sachdev R; Le Marne F; Macintosh R; Beavis E; Bye A; Palmer EE, 2024, 'Quality of life in caregivers of a child with a developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 66, pp. 206 - 215, http://dx.doi.org/10.1111/dmcn.15695

Nevin SM; Le Marne FA; Beavis E; Macintosh R; Palmer EE; Sachdev R; Nunn K; Bye A, 2024, 'Psychosocial experiences of clinicians providing care for children with severe neurological impairment', Developmental Medicine and Child Neurology, http://dx.doi.org/10.1111/dmcn.15987

Robertson EG; Roberts NJ; Le Marne F; Beavis E; Macintosh R; Kelada L; Best S; Goranitis I; Pierce K; Gill D; Sachdev R; Bye A; Palmer EE, 2023, '“Somewhere to turn to with my questions”: A pre-post pilot of an information linker service for caregivers who have a child with a Developmental and Epileptic Encephalopathy', European Journal of Paediatric Neurology, 47, pp. 94 - 104, http://dx.doi.org/10.1016/j.ejpn.2023.09.010

Le Marne FA; Briggs N; Frith K; Kariyawasam D; McCarthy HJ; Nunn K; Rao A; Sachdev R; Sarkozy V; Teng A; Trethewie S; Williams GD; Bye AME, 2023, 'Understanding the ongoing learning needs of Australian paediatricians: Evaluation of a pilot paediatric video teaching programme', Journal of Paediatrics and Child Health, 59, pp. 307 - 318, http://dx.doi.org/10.1111/jpc.16291

Scheffer IE; Bennett CA; Gill D; de Silva MG; Boggs K; Marum J; Baker N; Palmer EE; Howell KB; Andrews I; Antony J; Ardern-Holmes S; Bye AM; Cardamone M; Chelakkadan S; Clark D; Curnow SR; Dabscheck G; Fahey MC; Freeman JL; Gupta S; Harvey AS; Hildebrand MS; Inder M; Kanhangad M; Kornberg AJ; Kothur K; Lawson JA; Leventer RJ; Malone S; Menezes MP; Mohammad S; Nagarajan L; Pillai S; Pridmore C; Procopis PG; Sampaio H; Silberstein J; Sinclair A; Smith N; Subramanian G; Troedson C; Ware T; White SM, 2023, 'Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice', Developmental Medicine and Child Neurology, 65, pp. 50 - 57, http://dx.doi.org/10.1111/dmcn.15308

Le Marne FA; Stephens LM; Kranzusch K; Gunaratne PC; Ryan PJ; Archer ND; Beggs S; Balasooriya C; Bye AME, 2023, 'Understanding the ongoing learning needs of Australian metropolitan, rural and remote paediatricians: Evaluation of a neurology outreach programme', Journal of Paediatrics and Child Health, 59, pp. 134 - 143, http://dx.doi.org/10.1111/jpc.16261

Nevin SM; Wakefield CE; Dadich A; LeMarne F; Macintosh R; Beavis E; Sachdev R; Bye A; Nunn K; Palmer EE, 2022, 'Hearing parents' voices: A priority-setting workshop to inform a suite of psychological resources for parents of children with rare genetic epilepsies', PEC Innovation, 1, http://dx.doi.org/10.1016/j.pecinn.2021.100014

Kelada L; Wakefield CE; Drew D; Ooi CY; Palmer EE; Bye A; De Marchi S; Jaffe A; Kennedy S, 2022, 'Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning', Journal of Child Health Care, 26, pp. 581 - 596, http://dx.doi.org/10.1177/13674935211033466

Robertson EG; Kelada L; Best S; Goranitis I; Grainger N; Le Marne F; Pierce K; Nevin SM; Macintosh R; Beavis E; Sachdev R; Bye A; Palmer EE, 2022, 'Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: A mixed-method pilot study protocol', BMJ Open, 12, pp. e063249, http://dx.doi.org/10.1136/bmjopen-2022-063249

Nevin SM; Beavis E; Macintosh R; Palmer EE; Sachdev R; Le Marne FA; Bye AME; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 2 (of 3): Certainty', Journal of Paediatrics and Child Health, 58, pp. 1722 - 1725, http://dx.doi.org/10.1111/jpc.16202

Bye AME; Le Marne FA; Beavis E; Macintosh R; Nevin SM; Palmer EE; Sachdev R; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders: Part 3 (of 3): Hope', Journal of Paediatrics and Child Health, 58, pp. 1726 - 1728, http://dx.doi.org/10.1111/jpc.16187

Palmer EE; Sachdev R; Beavis E; Macintosh R; Le Marne FA; Nevin SM; Bye AME; Nunn K, 2022, 'Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty', Journal of Paediatrics and Child Health, 58, pp. 1718 - 1721, http://dx.doi.org/10.1111/jpc.16165

McLoone J; Wakefield CE; Marshall GM; Pierce K; Jaffe A; Bye A; Kennedy SE; Drew D; Lingam R, 2022, 'It's made a really hard situation even more difficult: The impact of COVID-19 on families of children with chronic illness', PLoS ONE, 17, http://dx.doi.org/10.1371/journal.pone.0273622

Nevin SM; Wakefield CE; Le Marne F; Beavis E; Macintosh R; Sachdev R; Bye A; Palmer EE; Nunn K, 2022, 'Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy', European Journal of Paediatric Neurology, 37, pp. 129 - 138, http://dx.doi.org/10.1016/j.ejpn.2022.01.022

Nevin SM; Wakefield CE; Barlow-Stewart K; McGill BC; Bye A; Palmer EE; Dale RC; Gill D; Kothur K; Boggs K; Le Marne F; Beavis E; Macintosh R; Sachdev R, 2022, 'Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy', Developmental Medicine and Child Neurology, 64, pp. 95 - 104, http://dx.doi.org/10.1111/dmcn.14971

Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782, http://dx.doi.org/10.1212/WNL.0000000000011655

Ng EWM; Le Marne F; Sinclair KG; Lorentzos MS; Waak M; Deuble N; Georgeson T; Rao A; Rikhi S; Mallitt KA; Bye A, 2021, 'Evaluation of an educational video providing key messages for doctors to counsel families following a first afebrile seizure', Journal of Paediatrics and Child Health, 57, pp. 198 - 203, http://dx.doi.org/10.1111/jpc.15171

Singh P; Numa A; Pethani B; Bye A; Cardamone M; Flanagan D, 2021, 'P0006 / #556: ASSESSING THE LOGISTICS, FEASIBILITY AND CHALLENGES OF ESTABLISHING CONTINUOUS EEG SERVICE IN A CHILDREN’S ICU', Pediatric Critical Care Medicine, 22, pp. 40 - 40, http://dx.doi.org/10.1097/01.pcc.0000738368.99382.28

Palmer EE; Carroll R; Shaw M; Kumar R; Minoche AE; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Nawaz U; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Demeer B; Andrieux J; Albarazi SH; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J, 2020, 'RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features', American Journal of Human Genetics, 107, pp. 1157 - 1169, http://dx.doi.org/10.1016/j.ajhg.2020.10.005

Balestrini S; Mikati MA; Álvarez-Garca-Rovés R; Carboni M; Hunanyan AS; Kherallah B; McLean M; Prange L; De Grandis E; Gagliardi A; Pisciotta L; Stagnaro M; Veneselli E; Campistol J; Fons C; Pias-Peleteiro L; Brashear A; Miller C; Samões R; Brankovic V; Padiath QS; Potic A; Pilch J; Vezyroglou A; Bye AME; Davis AM; Ryan MM; Semsarian C; Hollingsworth G; Scheffer IE; Granata T; Nardocci N; Ragona F; Arzimanoglou A; Panagiotakaki E; Carrilho I; Zucca C; Novy J; Dziezyc K; Parowicz M; Mazurkiewicz-Bełdzińska M; Weckhuysen S; Pons R; Groppa S; Sinden DS; Pitt GS; Tinker A; Ashworth M; Michalak Z; Thom M; Cross JH; Vavassori R; Kaski JP; Sisodiya SM, 2020, 'Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study', Neurology, 95, pp. E2866 - E2879, http://dx.doi.org/10.1212/WNL.0000000000010794

Nevin SM; Wakefield CE; Schilstra CE; McGill BC; Bye A; Palmer EE; Gok C, 2020, 'The information needs of parents of children with early-onset epilepsy: A systematic review', Epilepsy and Behavior, 112, pp. 107382, http://dx.doi.org/10.1016/j.yebeh.2020.107382

Le Marne FA; Towns SJ; Gaskin C; Ho J; Baker R; Beavis E; Bye AM, 2019, 'Implementing a new adolescent epilepsy service: Improving patient experience and readiness for transition', Journal of Paediatrics and Child Health, 55, pp. 819 - 825, http://dx.doi.org/10.1111/jpc.14301

Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST; Palmer E, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013

Tea F; Lopez JA; Ramanathan S; Merheb V; Lee FXZ; Zou A; Pilli D; Patrick E; van der Walt A; Monif M; Tantsis EM; Yiu EM; Vucic S; Henderson APD; Fok A; Fraser CL; Lechner-Scott J; Reddel SW; Broadley S; Barnett MH; Brown DA; Lunemann JD; Dale RC; Brilot F; Sinclair A; Kermode AG; Kornberg A; Bye A; McGettigan B; Trewin B; Brew B; Taylor B; Bundell C; Miteff C; Troedson C; Pridmore C; Spooner C; Yiannikas C; O'Gorman C; Clark D; Suan D; Jones D; Kilfoyle D; Gill D; Wakefield D; Hofmann D; Mathey E; O'Grady G; Jones HF; Beadnall H; Butzkueven H; Joshi H; Andrews I; Sutton I; MacIntyre J; Sandbach JM; Freeman J; King J; O'Neill JH; Parratt J; Barton J; Garber J; Ahmad K; Riney K; Buzzard K; Kothur K; Cantrill LC; Menezes MP; Paine MA; Marriot M; Ghadiri M; Boggild M; Lawlor M; Badve M; Ryan M; Aaqib M; Shuey N; Jordan N; Urriola N; Lawn N; White O; McCombe P; Patel R; Leventer R; Webster R; Smith R; Gupta S; Mohammad SS; Pillai S; Hawke S; Simon S; Calvert S; Blum S; Malone S; Hodgkinson S; Nguyen TK; Hardy TA; Kalincik T; Ware T; Fung VSC, 2019, 'Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination', Acta Neuropathologica Communications, 7, http://dx.doi.org/10.1186/s40478-019-0786-3

Le Marne FA; Butler S; Beavis E; Gill D; Bye AME, 2018, 'EpApp: Development and evaluation of a smartphone/tablet app for adolescents with epilepsy', Journal of Clinical Neuroscience, 50, pp. 214 - 220, http://dx.doi.org/10.1016/j.jocn.2018.01.065

Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK; Palmer E, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355

Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY; Palmer E, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006

Said M; Uppal P; Bye A; Palasanthiran P, 2018, 'Unusual case of tuberculous meningitis with discordant ventricular and lumbar cerebrospinal fluid; lessons in the era of world-wide migration', Journal of Paediatrics and Child Health, 54, pp. 93 - 95, http://dx.doi.org/10.1111/jpc.13665

Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A; Palmer E, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088

Palmer EE; Sachdev R; Kandula T; Macintosh R; Kirk E; Bye A; Palmer E, 2017, 'Genetics of Epileptic Encephalopathies', eLS, pp. 1 - 11, http://dx.doi.org/10.1002/9780470015902.a0026922

Johnson AM; Sugo E; Barreto D; Hiew CC; Lawson JA; Connolly AM; Somerville E; Hasic E; Bye AM; Cunningham AM, 2016, 'The Severity of Gliosis in Hippocampal Sclerosis Correlates with Pre-Operative Seizure Burden and Outcome After Temporal Lobectomy', Molecular Neurobiology, 53, pp. 5446 - 5456, http://dx.doi.org/10.1007/s12035-015-9465-y

Le Marne FA; McGinness H; Slade R; Cardamone M; Balbir Singh S; Connolly AM; Bye AME, 2016, 'Evaluation of an E-learning resource on approach to the first unprovoked seizure', Journal of Paediatrics and Child Health, 52, pp. 896 - 900, http://dx.doi.org/10.1111/jpc.13277

Palmer EE; Jarrett KE; Sachdev RK; Zahrani FA; Hashem MO; Ibrahim N; Sampaio H; Kandula T; Macintosh R; Gupta R; Conlon DM; Billheimer JT; Rader DJ; Funato K; Walkey CJ; Lee CS; Loo C; Brammah S; Elakis G; Zhu Y; Buckley M; Kirk EP; Bye A; Alkuraya FS; Roscioli T; Lagor WR; Palmer E, 2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157

Palmer EE; Hayner J; Sachdev R; Cardamone M; Kandula T; Morris P; Dias KR; Tao J; Miller D; Zhu Y; Macintosh R; Dinger ME; Cowley MJ; Buckley MF; Roscioli T; Bye A; Kilberg MS; Kirk EP; Palmer E, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007

Connolly AM; Beavis E; Mugica-Cox B; Bye AME; Lawson JA, 2015, 'Exploring carer perceptions of training in out-of-hospital use of buccal midazolam for emergency management of seizures (2008-2012)', Journal of Paediatrics and Child Health, 51, pp. 704 - 707, http://dx.doi.org/10.1111/jpc.12811

Johnson AM; Sugo E; Barreto D; Cunningham AM; Hiew CC; Lawson JA; Somerville ER; Connolly AM; Bye AME, 2014, 'Response to "About Focal Cortical Dysplasia (FCD) type IIIa"', Epilepsy Research, 108, pp. 1958 - 1959, http://dx.doi.org/10.1016/j.eplepsyres.2014.09.027

Connolly AM; Slade R; Uppal P; Bye AME, 2014, 'Caring for children and adolescents with epilepsy: Creating an innovative electronic educational resource', Journal of Clinical Neuroscience, 21, pp. 1831 - 1832, http://dx.doi.org/10.1016/j.jocn.2014.02.019

Johnson AM; Sugo E; Barreto D; Cunningham AM; Hiew CC; Lawson JA; Somerville ER; Connolly AM; Bye AME, 2014, 'Clinicopathological associations in temporal lobe epilepsy patients utilising the current ILAE focal cortical dysplasia classification', Epilepsy Research, 108, pp. 1345 - 1351, http://dx.doi.org/10.1016/j.eplepsyres.2014.06.013

Connolly AM; Cunningham C; Sinclair AJ; Rao A; Lonergan A; Bye AME, 2014, ''Beyond Milestones': A randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child development', Journal of Paediatrics and Child Health, 50, pp. 393 - 398, http://dx.doi.org/10.1111/jpc.12485

Morton NJ; Palasanthiran P; Bye A; Sugo E; Snelling TL; Britton P; Kesson A; Ardern-Holmes S, 2013, 'Severe hemorrhagic meningoencephalitis due to angiostrongylus cantonensis among young children in Sydney, Australia', Clinical Infectious Diseases, 57, pp. 1158 - 1161, http://dx.doi.org/10.1093/cid/cit444

Connolly AM; Cunningham C; Sinclair AJ; Lonergan A; Bye AM; Rao A, 2013, ''Beyond Milestones': A randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child development', Journal of Paediatrics and Child Health, http://dx.doi.org/10.1111/jpc.12485

Carvill GL; Heavin SB; Yendle SC; McMahon JM; O'Roak BJ; Cook J; Khan A; Dorschner MO; Weaver M; Calvert S; Malone S; Wallace G; Stanley T; Bye AME; Bleasel AF; Howell KB; Kivity S; Mackay MT; Rodriguez-Casero V; Webster R; Korczyn AD; Afawi Z; Zelnick N; Lerman-Sagie T; Lev D; Moller RS; Gill D; Andrade DM; Freeman JL; Sadleir LG; Shendure JA; Berkovic SF; Scheffer IE; Mefford HC, 2013, 'Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1', Nature Genetics, 45, pp. 825 - 830, http://dx.doi.org/10.1038/ng.2646

Heinzen EL; Swoboda KJ; Hitomi Y; Gurrieri F; Bye AM, 2012, 'De novo mutations in ATP1A3 cause alternating hemiplegia of childhood', Nature Genetics, 44, pp. 1030 - 1034, http://dx.doi.org/10.1038/ng.2358

Frizzell C; Connolly AM; Beavis E; Lawson JA; Bye AM, 2010, 'Personalised epilepsy education intervention for adolescents and impact on knowledge acquisition and psychosocial function', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13)

Neilson D; Adams M; Orr C; Schelling D; Eiben R; Kerr D; Bassuk A; Bye AM; Childs A; Clarke AR; Crow Y; Di Rocco M; Dohna-Schwake C; Dueckers G; Fasano A; Gika A; Gionnis D; Gorman M; Grattan-Smith PJ; Hackenberg A; Kuster A; Lentschig M; Lopez-Laso E; Marco E; Mastroyianni S; Perrier J; Schmitt-Mechelke T; Servidei S; Skardoutsou A; Uldall P; van der Knaap M; Goglin K; Tefft D; Aubin C; de Jager P; Hafler D; Warman M, 2009, 'Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2', American Journal of Human Genetics, 84, pp. 44 - 51

Bye AM; Connolly AM; Farrar MA; Lawson JA; Lonergan A, 2009, 'Teaching paediatric epilepsy to medical students: A randomised crossover trial', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 45, pp. 727 - 730

Bruggemann JM; Wilke M; Som SS; Bye AM; Bleasel AF; Lawson JA, 2009, 'Voxel-based morphometry in the detection of dysplasia and neoplasia in childhood epilepsy: Limitations of grey matter analysis', Journal of Clinical Neuroscience, 16, pp. 780 - 785, http://dx.doi.org/10.1016/j.jocn.2008.08.025

Farrar MA; Connolly AM; Lawson JS; Burgess AJ; Lonergan A; Bye AM, 2008, 'Teaching doctors how to diagnose paroxysmal events: a comparison of two educational methods', Medical Education, 42, pp. 909 - 914

Harkin LA; McMahon JM; Iona X; Dibbens L; Pelekanos JT; Zuberi SM; Sadleir LG; Andermann E; Gill D; Farrell K; Connolly M; Stanley T; Harbord M; Andermann F; Wang J; Batish SD; Jones JG; Seltzer WK; Gardner A; Sutherland G; Berkovic SF; Mulley JC; Scheffer IE; Abbott K; Andrews I; Appleton B; Bleasel A; Buchanan N; Burke C; Bye A; Camfield C; Camfield P; Chow G; Collins K; Cook M; Cross JH; Crow Y; D'Agostino MD; Delatycki M; Dunkley C; Fawke J; Ferrie C; Geraghty M; Graham G; Grattan-Smith P; Hallam E; Hamiwka L; Harding A; Harvey S; Hayman M; Hufton I; Humphries P; Jacob P; Jacquemard R; Jamison D; Jardine P; Jones S; Keene D; Kelley K; Ketteridge D; Kim A; Kivity S; Kneebone C; Kornberg A; Lamb C; Lander C; Lerman-Sagie T; Lev D; Leventer R; Mackay M; Malone S; Manson J; McLellan A; Moore P; Nagarajan L; Nash M; Nikanorova M; Nordli D; O'Regan M; Ouvrier R; Patel J; Pridmore C; Ramesh V; Reutens D; Rowe P; Shield L; Shillito P; Smith L; Spooner C; Wallace G; Watemberg N; Whitehouse W; Wirrell E, 2007, 'The spectrum of SCN1A-related infantile epileptic encephalopathies', Brain, 130, pp. 843 - 852, http://dx.doi.org/10.1093/brain/awm002


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