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Journal articles

Sauter M; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D’Amato L; d’Augères GB; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O’Callaghan F; Qin J; Sander V; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen A; Kingswood JC; Shinohara N; Horie S; Kubota M; Tohyama J; Imai K; Kaneda M; Kaneko H; Uchida Y; Kirino T; Endo S; Inoue Y; Uruno K; Serdaroglu A; Yapici Z; Anlar B; Altunbasak S; Lvova O; Belyaev OV; Agranovich O; Levitina EV; Maksimova YV; Karas A; Jiang Y; Zou L; Xu K; Zhang Y; Luan G; Zhang Y; Wang Y; Jin M; Ye D; Liao W; Zhou L; Liu J; Liao J; Yan B; Deng Y; Jiang L; Liu Z; Huang S; Li H; Kim K; Chen PL; Lee HF; Tsai JD; Chi CS; Huang CC; Riney K; Yates D; Kwan P; Likasitwattanakul S; Nabangchang C; Chomtho LTK; Katanyuwong K; Sriudomkajorn S; Wilmshurst J; Segel R; Gilboa T; Tzadok M; Valevski AF; Papathanasopoulos P; Papavasiliou AS; Giannakodimos S; Gatzonis S; Pavlou E; Tzoufi M; Vergeer AMH; Dhooghe M; Verhelst H; Roelens F; Nassogne MC, 2021, 'Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)', Orphanet Journal of Rare Diseases, vol. 16, pp. 301, http://dx.doi.org/10.1186/s13023-021-01917-y

Nabbout R; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; Beaure d'Augères G; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; O'Callaghan F; Qin J; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen AC; Kingswood JC, 2021, 'Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry', Frontiers in Neurology, vol. 12, http://dx.doi.org/10.3389/fneur.2021.697467

Stolz JR; Foote KM; Veenstra-Knol HE; Pfundt R; ten Broeke SW; de Leeuw N; Roht L; Pajusalu S; Part R; Rebane I; Õunap K; Stark Z; Kirk EP; Lawson JA; Lunke S; Christodoulou J; Louie RJ; Rogers RC; Davis JM; Innes AM; Wei XC; Keren B; Mignot C; Lebel RR; Sperber SM; Sakonju A; Dosa N; Barge-Schaapveld DQCM; Peeters-Scholte CMPCD; Ruivenkamp CAL; van Bon BW; Kennedy J; Low KJ; Ellard S; Pang L; Junewick JJ; Mark PR; Carvill GL; Swanson GT, 2021, 'Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders', American Journal of Human Genetics, vol. 108, pp. 1692 - 1709, http://dx.doi.org/10.1016/j.ajhg.2021.07.007

Chan DL; Kennedy SE; Sarkozy VE; Chung CWT; Flanagan D; Mowat D; Farrar MA; Lawson JA, 2021, 'Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome', Pediatric Research, vol. 89, pp. 1447 - 1451, http://dx.doi.org/10.1038/s41390-020-1002-7

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, vol. 96, pp. e1770 - e1782, http://dx.doi.org/10.1212/WNL.0000000000011655

Kingswood JC; Belousova E; Benedik MP; Budde K; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; d'Augères GB; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen AC, 2021, 'TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex', Frontiers in Neurology, vol. 12, http://dx.doi.org/10.3389/fneur.2021.630378

Thiele EA; Bebin EM; Bhathal H; Jansen FE; Kotulska K; Lawson JA; O'Callaghan FJ; Wong M; Sahebkar F; Checketts D; Knappertz V, 2021, 'Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial', JAMA Neurology, vol. 78, pp. 285 - 292, http://dx.doi.org/10.1001/jamaneurol.2020.4607

Franz DN; Lawson JA; Yapici Z; Ikeda H; Polster T; Nabbout R; Curatolo P; de Vries PJ; Dlugos DJ; Herbst F; Peyrard S; Pelov D; French JA, 2021, 'Adjunctive everolimus therapy for tuberous sclerosis complex-associated refractory seizures: Results from the postextension phase of EXIST-3', Epilepsia, http://dx.doi.org/10.1111/epi.17099

Uppal P; Cardamone M; Fonseca B; Briggs N; A Lawson J, 2021, 'The need for improved management of status epilepticus in children in Australia: Time from seizure onset to treatment is consistently delayed', Journal of Paediatrics and Child Health, http://dx.doi.org/10.1111/jpc.15697

Joplin S; Webster R; Gill D; Barton B; Lawson JA; Mandalis A; Sabaz M; Gascoigne M; Lah S, 2020, 'Accelerated long-term forgetting in children with genetic generalized epilepsy: The temporal trajectory and contribution of executive skills', Epilepsy and Behavior, vol. 113, http://dx.doi.org/10.1016/j.yebeh.2020.107471

Fong CY; Bleasel A; Dexter MAJ; Lawson JA; Wong CH, 2020, 'Successful epilepsy surgery for tuberous sclerosis complex evaluated by stereoelectroencephalography', Epileptic Disorders, vol. 22, pp. 633 - 641, http://dx.doi.org/10.1684/epd.2020.1211

Kingswood JC; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; Beaure d'Augères G; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen AC; Sauter M, 2020, 'Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas', Frontiers in Neurology, vol. 11, http://dx.doi.org/10.3389/fneur.2020.00972

De Vries PJ; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; D'Amato L; Beure D'Augères G; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Kingswood JC; Jansen AC; Shinohara N; Horie S; Kubota M; Tohyama J; Imai K; Kaneda M; Kaneko H; Uchida Y; Kirino T; Endo S; Inoue Y; Uruno K; Serdaroglu A; Yapici Z; Anlar B; Altunbasak S; Lvova O; Belyaev OV; Agranovich O; Levitina EV; Maksimova YV; Karas A; Jiang Y; Zou L; Xu K; Zhang Y; Luan G; Zhang Y; Wang Y; Jin M; Ye D; Liao W; Zhou L; Liu J; Liao J; Yan B; Deng Y; Jiang L; Liu Z; Huang S; Li H; Kim K; Chen PL; Lee HF; Tsai JD; Chi CS; Huang CC; Riney K; Yates D; Kwan P; Likasitwattanakul S; Nabangchang C; Chomtho LTK; Katanyuwong K; Sriudomkajorn S; Wilmshurst J; Segel R; Gilboa T; Tzadok M; Fattal-Valevski A; Papathanasopoulos P; Papavasiliou AS; Giannakodimos S; Gatzonis S; Pavlou E; Tzoufi M; Vergeer AMH; Dhooghe M; Verhelst H; Roelens F; Nassogne MC; Defresne P, 2020, 'Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): New findings from the TOSCA TAND research project', Journal of Neurodevelopmental Disorders, vol. 12, http://dx.doi.org/10.1186/s11689-020-09327-0

Jansen AC; Vanclooster S; de Vries PJ; Fladrowski C; Beaure d'Augères G; Carter T; Belousova E; Benedik MP; Cottin V; Curatolo P; Dahlin M; D'Amato L; Ferreira JC; Feucht M; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Kingswood JC; Shinohara N; Horie S; Kubota M; Tohyama J; Imai K; Kaneda M; Kaneko H; Uchida Y; Kirino T; Endo S; Inoue Y; Uruno K; Serdaroglu A; Yapici Z; Anlar B; Altunbasak S; Lvova O; Belyaev OV; Agranovich O; Levitina EV; Maksimova YV; Karas A; Jiang Y; Zou L; Xu K; Zhang Y; Luan G; Zhang Y; Wang Y; Jin M; Ye D; Ye D; Zhou L; Liu J; Liao J; YAN B; Deng Y; Jiang L; Liu Z; Huang S; Li H; Kim K; Chen PL; Lee HF; Tsai JD; Chi CS; Huang CC; Riney K; Yates D; Kwan P; Likasitwattanakul S; Nabangchang C; Chomtho LTK; Katanyuwong K; Sriudomkajorn S; Wilmshurst J; Segel R; Gilboa T; Tzadok M; Fattal-Valevski T; Papathanasopoulos P; Papavasiliou AS; Giannakodimos S; Gatzonis S; Pavlou E; Tzoufi M; Vergeer AMH; Dhooghe M; Verhelst H; Roelens F, 2020, 'Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study', Frontiers in Neurology, vol. 11, http://dx.doi.org/10.3389/fneur.2020.00904

de Vries PJ; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; Beaure d'Augères G; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Kingswood JC; Jansen AC, 2020, 'Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype', Frontiers in Neurology, vol. 11, http://dx.doi.org/10.3389/fneur.2020.00603

Uppal P; Cardamone M; Webber C; Briggs N; Lawson JA, 2019, 'Management of status epilepticus in children prior to medical retrieval: Deviations from the guidelines', Journal of Paediatrics and Child Health, vol. 55, pp. 1458 - 1462, http://dx.doi.org/10.1111/jpc.14448

Marques R; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; Beaure d'Augères G; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jansen AC; Jozwiak S; Kingswood JC; Lawson JA; Macaya A; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Nabbout R, 2019, 'The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases', Frontiers in Neurology, vol. 10, http://dx.doi.org/10.3389/fneur.2019.01182

Stewart E; Catroppa C; Gonzalez L; Gill D; Webster R; Lawson J; Sabaz M; Mandalis A; Barton B; McLean S; Lah S, 2019, 'Facial emotion perception and social competence in children (8 to 16 years old) with genetic generalized epilepsy and temporal lobe epilepsy', Epilepsy and Behavior, vol. 100, http://dx.doi.org/10.1016/j.yebeh.2019.04.054

Stewart E; Catroppa C; Gonzalez L; Gill D; Webster R; Lawson J; Sabaz M; Mandalis A; Barton B; McLean S; Lah S, 2019, 'Theory of mind and social competence in children and adolescents with temporal lobe epilepsy', Neuropsychology, vol. 33, pp. 986 - 995, http://dx.doi.org/10.1037/neu0000543

Nabbout R; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D´Amato L; d'Augères GB; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen A; Kingswood JC; Shinohara N; Horie S; Kubota M; Tohyama J; Imai K; Kaneda M; Kaneko H; Uchida Y; Endo S; Inoue Y; Uruno K; Serdaroglu A; Yapici Z; Anlar B; Altunbasak S; Lvova O; Valeryevich Belyaev O; Agranovich O; Vladislavovna Levitina E; Vladimirovna Maksimova Y; Karas A; Jiang Y; Zou L; Xu K; Zhang Y; Luan G; Zhang Y; Wang Y; Jin M; Ye D; Liao W; Zhou L; Liu J; Liao J; Yan B; Deng Y; Jiang L; Liu Z; Huang S; Li H; Kim K; Chen PL; Lee HF; Tsai JD; Chi CS; Huang CC; Riney K; Yates D; Kwan P; Likasitwattanakul S; Nabangchang C; Thampratankul Krisnachai Chomtho L; Katanyuwong K; Sriudomkajorn S; Wilmshurst J; Segel R; Gilboa T; Tzadok M; Fattal-Valevski A; Papathanasopoulos P; Syrigou Papavasiliou A; Giannakodimos S; Gatzonis S; Pavlou E; Tzoufi M; Dhooghe M; Verhelst H; Roelens F; Cecile Nassogne M; Defresne P; De Waele L, 2019, 'Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study', Epilepsia Open, vol. 4, pp. 73 - 84, http://dx.doi.org/10.1002/epi4.12286

Kingswood JC; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; D'Augères GB; De Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen AC, 2019, 'Renal angiomyolipoma in patients with tuberous sclerosis complex: Findings from the TuberOus SClerosis registry to increase disease Awareness', Nephrology Dialysis Transplantation, vol. 34, pp. 502 - 508, http://dx.doi.org/10.1093/ndt/gfy063

Jansen AC; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; D'Augères GB; De Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Kingswood JC; Shinohara N; Horie S; Kubota M; Tohyama J; Imai K; Kaneda M; Kaneko H; Uchida Y; Kirino T; Endo S; Inoue Y; Uruno K; Serdaroglu A; Yapici Z; Anlar B; Altunbasak S; Lvova O; Belyaev OV; Agranovich O; Levitina EV; Maksimova YV; Karas A; Jiang Y; Zou L; Xu K; Zhang Y; Luan G; Zhang Y; Wang Y; Jin M; Ye D; Liao W; Zhou L; Liu J; Liao J; Yan B; Deng Y; Jiang L; Liu Z; Huang S; Li H; Kim K; Chen PL; Lee HF; Tsai JD; Chi CS; Huang CC; Riney K; Yates D; Kwan P; Likasitwattanakul S; Nabangchang C; Chomtho LTK; Katanyuwong K; Sriudomkajorn S; Wilmshurst J; Segel R; Gilboa T; Tzadok M; Fattal-Valevski A; Papathanasopoulos P; Papavasiliou AS; Giannakodimos S; Gatzonis S; Pavlou E; Tzoufi M; Vergeer AMH; Dhooghe M; Verhelst H; Roelens F; Nassogne MC, 2019, 'Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex', Frontiers in Neurology, vol. 10, http://dx.doi.org/10.3389/fneur.2019.00705

Jansen AC; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; D'Amato L; D'Augères GB; De Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; MacAya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Kingswood JC; Fladrowsk C; Shinohara N; Horie S; Kubota M; Tohyama J; Imai K; Kaneda M; Kaneko H; Uchida Y; Kirino T; Endo S; Inoue Y; Uruno K; Serdaroglu A; Yapici Z; Anlar B; Altunbasak S; Lvova O; Belyaev OV; Agranovich O; Levitina EV; Maksimova YV; Karas A; Jiang Y; Zou L; Xu K; Zhang Y; Luan G; Zhang Y; Wang Y; Jin M; Ye D; Liao W; Zhou L; Liu J; Liao J; Yan B; Deng Y; Jiang L; Liu Z; Huang S; Li H; Kim K; Chen PL; Lee HF; Tsai JD; Chi CS; Huang CC; Riney K; Yates D; Kwan P; Likasitwattanakul S; Nabangchang C; Krisnachai Chomtho LT; Katanyuwong K; Sriudomkajorn S; Wilmshurst J; Segel R; Gilboa T; Tzadok M; Fattal-Valevski A; Papathanasopoulos P; Papavasiliou AS; Giannakodimos S; Gatzonis S; Pavlou E; Tzoufi M; Vergeer AMH; Dhooghe M; Verhelst H; Roelens F; Nassogne MC, 2019, 'Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study', Frontiers in Neurology, vol. 10, http://dx.doi.org/10.3389/fneur.2019.00821

Marques R; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D’amato L; D’augères GB; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Nabbout R; O’callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Kingswood JC; Jansen AC, 2019, 'Treatment patterns and use of resources in patients with tuberous sclerosis complex: Insights from the TOSCA registry', Frontiers in Neurology, vol. 10, http://dx.doi.org/10.3389/fneur.2019.01144

Krueger DA; Capal JK; Curatolo P; Devinsky O; Ess K; Tzadok M; Koenig MK; Narayanan V; Ramos F; Jozwiak S; de Vries P; Jansen AC; Wong M; Mowat D; Lawson J; Bruns S; Franz DN, 2018, 'Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience', European Journal of Paediatric Neurology, vol. 22, pp. 1066 - 1073, http://dx.doi.org/10.1016/j.ejpn.2018.06.007

Lawson JA; Scheffer IE, 2018, 'Therapeutic use of medicinal cannabis in difficult to manage epilepsy', British Journal of Clinical Pharmacology, vol. 84, pp. 2488 - 2490, http://dx.doi.org/10.1111/bcp.13711

de Vries PJ; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; d'Augères GB; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Kingswood JC; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Sauter M; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen AC, 2018, 'TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study', Orphanet journal of rare diseases, vol. 13, pp. 157, http://dx.doi.org/10.1186/s13023-018-0901-8

Chen KA; Farrar M; Cardamone M; Gill D; Smith R; Cowell CT; Truong L; Lawson JA, 2018, 'Cannabidiol for treating drug-resistant epilepsy in children: The New South Wales experience', Medical Journal of Australia, vol. 209, pp. 217 - 221, http://dx.doi.org/10.5694/mja18.00023

de Vries PJ; Franz DN; Curatolo P; Nabbout R; Neary M; Herbst F; Sully K; Brohan E; Bennett B; Lawson JA, 2018, 'Measuring health-related quality of life in Tuberous sclerosis complex - psychometric evaluation of three instruments in individuals with refractory epilepsy', Frontiers in Pharmacology, vol. 9, http://dx.doi.org/10.3389/fphar.2018.00964

Stewart E; Catroppa C; Gill D; Webster R; Lawson J; Mandalis A; Sabaz M; Barton B; Lah S, 2018, 'Theory of Mind and social competence in children and adolescents with genetic generalised epilepsy (GGE): Relationships to epilepsy severity and anti-epileptic drugs', Seizure, vol. 60, pp. 96 - 104, http://dx.doi.org/10.1016/j.seizure.2018.06.015

Curatolo P; Franz DN; Lawson JA; Yapici Z; Ikeda H; Polster T; Nabbout R; de Vries PJ; Dlugos DJ; Fan J; Ridolfi A; Pelov D; Voi M; French JA, 2018, 'Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial', The Lancet Child and Adolescent Health, vol. 2, pp. 495 - 504, http://dx.doi.org/10.1016/S2352-4642(18)30099-3

Franz DN; Lawson JA; Yapici Z; Brandt C; Kohrman MH; Wong M; Milh M; Wiemer-Kruel A; Voi M; Coello N; Cheung W; Grosch K; French JA, 2018, 'Everolimus dosing recommendations for tuberous sclerosis complex–associated refractory seizures', Epilepsia, vol. 59, pp. 1188 - 1197, http://dx.doi.org/10.1111/epi.14085

Uppal P; Cardamone M; Lawson JA, 2018, 'Outcomes of deviation from treatment guidelines in status epilepticus: A systematic review', Seizure, vol. 58, pp. 147 - 153, http://dx.doi.org/10.1016/j.seizure.2018.04.005

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, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, vol. 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355

Chen KA; Farrar MA; Cardamone M; Lawson J, 2018, 'Cannabis for paediatric epilepsy: challenges and conundrums', The Medical journal of Australia, vol. 208, pp. 138 - 142, http://dx.doi.org/10.5694/mja17.00699

Franz DN; Lawson JA; Yapici Z; Ikeda H; Polster T; Nabbout R; Curatolo P; De Vries PJ; Dlugos DJ; Voi M; Fan J; Vaury A; Pelov D; French JA, 2018, 'Everolimus for treatment-refractory seizures in TSC: Extension of a randomized controlled trial', Neurology: Clinical Practice, vol. 8, pp. 412 - 420, http://dx.doi.org/10.1212/CPJ.0000000000000514

Chan DL; Calder T; Lawson JL; Mowat D; Kennedy SE, 2017, 'The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review.', Reviews in the Neurosciences, vol. 29, pp. 295 - 301, http://dx.doi.org/10.1515/revneuro-2017-0027

Chung CWT; Lawson JA; Sarkozy V; Riney K; Wargon O; Shand AW; Cooper S; King H; Kennedy SE; Mowat D, 2017, 'Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome', Pediatric Neurology, vol. 76, pp. 20 - 26, http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.014

Xu Y; Hackett ML; Glozier N; Nikpour A; Bleasel A; Somerville E; Lawson J; Jan S; Hyde L; Todd L; Martiniuk A; Ireland C; Anderson CS, 2017, 'Frequency and predictors of psychological distress after a diagnosis of epilepsy: A community-based study', Epilepsy and Behavior, vol. 75, pp. 190 - 195, http://dx.doi.org/10.1016/j.yebeh.2017.07.044

Von Spiczak S; Helbig KL; Shinde DN; Huether R; Pendziwiat M; Lourenço C; Nunes ME; Sarco DP; Kaplan RA; Dlugos DJ; Kirsch H; Slavotinek A; Cilio MR; Cervenka MC; Cohen JS; McClellan R; Fatemi A; Yuen A; Sagawa Y; Littlejohn R; McLean SD; Hernandez-Hernandez L; Maher B; Møller RS; Palmer E; Lawson JA; Campbell CA; Joshi CN; Kolbe DL; Hollingsworth G; Neubauer BA; Muhle H; Stephani U; Scheffer IE; Pena SDJ; Sisodiya SM; Helbig I, 2017, 'DNM1 encephalopathy', Neurology, vol. 89, pp. 385 - 394, http://dx.doi.org/10.1212/WNL.0000000000004152

Platzer K; Yuan H; Schütz H; Winschel A; Chen W; Hu C; Kusumoto H; Heyne HO; Helbig KL; Tang S; Willing MC; Tinkle BT; Adams DJ; Depienne C; Keren B; Mignot C; Frengen E; Strømme P; Biskup S; Döcker D; Strom TM; Mefford HC; Myers CT; Muir AM; LaCroix A; Sadleir L; Scheffer IE; Brilstra E; van Haelst MM; van der Smagt JJ; Bok LA; Møller RS; Jensen UB; Millichap JJ; Berg AT; Goldberg EM; De Bie I; Fox S; Major P; Jones JR; Zackai EH; Abou Jamra R; Rolfs A; Leventer RJ; Lawson JA; Roscioli T; Jansen FE; Ranza E; Korff CM; Lehesjoki AE; Courage C; Linnankivi T; Smith DR; Stanley C; Mintz M; McKnight D; Decker A; Tan WH; Tarnopolsky MA; Brady LI; Wolff M; Dondit L; Pedro HF; Parisotto SE; Jones KL; Patel AD; Franz DN; Vanzo R; Marco E; Ranells JD; Di Donato N; Dobyns WB; Laube B; Traynelis SF; Lemke JR, 2017, 'GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects', Journal of Medical Genetics, vol. 54, pp. 460 - 470, http://dx.doi.org/10.1136/jmedgenet-2016-104509

Williams RE; Adams HR; Blohm M; Cohen-Pfeffer JL; de los Reyes E; Denecke J; Drago K; Fairhurst C; Frazier M; Guelbert N; Kiss S; Kofler A; Lawson JA; Lehwald L; Leung MA; Mikhaylova S; Mink JW; Nickel M; Shediac R; Sims K; Specchio N; Topcu M; von Löbbecke I; West A; Zernikow B; Schulz A, 2017, 'Management Strategies for CLN2 Disease', Pediatric Neurology, vol. 69, pp. 102 - 112, http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.034

Kingswood JC; D'Augères GB; Belousova E; Ferreira JC; Carter T; Castellana R; Cottin V; Curatolo P; Dahlin M; De Vries PJ; Feucht M; Fladrowski C; Gislimberti G; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Nabbout R; O'Callaghan F; Benedik MP; Qin J; Marques R; Sander V; Sauter M; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen AC, 2017, 'TuberOus SClerosis registry to increase disease Awareness (TOSCA) - Baseline data on 2093 patients', Orphanet Journal of Rare Diseases, vol. 12, http://dx.doi.org/10.1186/s13023-016-0553-5

French JA; Lawson JA; Yapici Z; Ikeda H; Polster T; Nabbout R; Curatolo P; de Vries PJ; Dlugos DJ; Voi M; Fan J; Ridolfi A; Pelov D; Franz DN, 2017, 'Outcomes in patients with tuberous sclerosis complex-associated treatment-refractory seizures, transitioning from placebo in core phase to everolimus during extension phase of the EXIST-3 trial', Journal of the Neurological Sciences, vol. 381, pp. 87 - 87, http://dx.doi.org/10.1016/j.jns.2017.08.293

French JA; Lawson JA; Yapici Z; Ikeda H; Polster T; Nabbout R; Curatolo P; de Vries PJ; Dlugos DJ; Berkowitz N; Voi M; Peyrard S; Pelov D; Franz DN, 2016, 'Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study', The Lancet, vol. 388, pp. 2153 - 2163, http://dx.doi.org/10.1016/S0140-6736(16)31419-2

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, vol. 53, pp. 5446 - 5456, http://dx.doi.org/10.1007/s12035-015-9465-y

Jenkins D; McCuaig C; Drolet BA; Siegel D; Adams S; Lawson JA; Wargon O, 2016, 'Tuberous Sclerosis Complex Associated with Vascular Anomalies or Overgrowth', Pediatric Dermatology, vol. 33, pp. 536 - 542, http://dx.doi.org/10.1111/pde.12946

Chang FCF; Westenberger A; Dale RC; Smith M; Pall HS; Perez-Dueñas B; Grattan-Smith P; Ouvrier RA; Mahant N; Hanna BC; Hunter M; Lawson JA; Max C; Sachdev R; Meyer E; Crimmins D; Pryor D; Morris JGL; Münchau A; Grozeva D; Carss KJ; Raymond L; Kurian MA; Klein C; Fung VSC, 2016, 'Phenotypic insights into ADCY5-associated disease', Movement Disorders, vol. 31, pp. 1033 - 1040, http://dx.doi.org/10.1002/mds.26598

Tantsis EM; Gill D; Griffiths L; Gupta S; Lawson J; Maksemous N; Ouvrier R; Riant F; Smith R; Troedson C; Webster R; Menezes MP, 2016, 'Eye movement disorders are an early manifestation of CACNA1A mutations in children', Developmental Medicine and Child Neurology, vol. 58, pp. 639 - 644, http://dx.doi.org/10.1111/dmcn.13033

Schulz A; Adams HR; Blohm M; Cohen-Pfeffer JL; de los Reyes E; Denecke J; Drago K; Fairhurst C; Frazier M; Guelbert N; Kiss S; Kofler A; Lawson J; Lehwald L; Leung M-A; Mikhailova S; Mink JW; Nickel M; Shediac R; Sims K; Specchio N; Topcu M; von Löbbecke I; West A; Williams RE, 2016, 'Expert opinion on the management of CLN2 disease', Molecular Genetics and Metabolism, vol. 117, pp. S103 - S104, http://dx.doi.org/10.1016/j.ymgme.2015.12.432


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