Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study von Kurian, Manju A, Dr, Li, Yan, PhD, Zhen, Juan, PhD, Meyer, Esther, PhD, Hai, Nebula, BSc, Christen, Hans-Jürgen, Prof, Hoffmann, Georg F, Prof, Jardine, Philip, MD, von Moers, Arpad, MD, Mordekar, Santosh R, MD, O'Callaghan, Finbar, PhD, Wassmer, Evangeline, FRCPCH, Wraige, Elizabeth, FRCPCH, Dietrich, Christa, PhD, Lewis, Timothy, FRCR, Hyland, Keith, PhD, Heales, Simon JR, Prof, Sanger, Terence, MD, Gissen, Paul, PhD, Assmann, Birgit E, MD, Reith, Maarten EA, Prof, Maher, Eamonn R, Prof

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The Phenotypic Continuum of ATP1A3 -Related Disorders von Vezyroglou, Aikaterini, Akilapa, Rhoda, Barwick, Katy, Koene, Saskia, Brownstein, Catherine A., Holder-Espinasse, Muriel, Fry, Andrew E., Németh, Andrea H., Tofaris, George K., Hay, Eleanor, Hughes, Imelda, Mansour, Sahar, Mordekar, Santosh R., Splitt, Miranda, Turnpenny, Peter D., Demetriou, Demetria, Koopmann, Tamara T., Ruivenkamp, Claudia A.L., Agrawal, Pankaj B., Carr, Lucinda, Clowes, Virginia, Ghali, Neeti, Holder, Susan Elizabeth, Radley, Jessica, Male, Alison, Sisodiya, Sanjay M., Kurian, Manju A., Cross, J. Helen, Balasubramanian, Meena

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Feed‐induced Dystonias in Children With Severe Central Nervous System Disorders von Mordekar, Santosh R., Velayudhan, Manjula, Campbell, David I.

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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect von Metz, Kyle A., Teng, Xinchen, Coppens, Isabelle, Lamb, Heather M., Wagner, Bart E., Rosenfeld, Jill A., Chen, Xianghui, Zhang, Yu, Kim, Hee Jong, Meadow, Michael E., Wang, Tim Sen, Haberlandt, Edda D., Anderson, Glenn W., Leshinsky‐Silver, Esther, Bi, Weimin, Markello, Thomas C., Pratt, Marsha, Makhseed, Nawal, Garnica, Adolfo, Danylchuk, Noelle R., Burrow, Thomas A., Jayakar, Parul, McKnight, Dianalee, Agadi, Satish, Gbedawo, Hatha, Stanley, Christine, Alber, Michael, Prehl, Isabelle, Peariso, Katrina, Ong, Min Tsui, Mordekar, Santosh R., Parker, Michael J., Crooks, Daniel, Agrawal, Pankaj B., Berry, Gerard T., Loddenkemper, Tobias, Yang, Yaping, Maegawa, Gustavo H. B., Aouacheria, Abdel, Markle, Janet G., Wohlschlegel, James A., Hartman, Adam L., Hardwick, J. Marie

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Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia von Kurian, Manju A, Zhen, Juan, Cheng, Shu-Yuan, Li, Yan, Mordekar, Santosh R, Jardine, Philip, Morgan, Neil V, Meyer, Esther, Tee, Louise, Pasha, Shanaz, Wassmer, Evangeline, Heales, Simon J R, Gissen, Paul, Reith, Maarten E A, Maher, Eamonn R

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Encephalopathy in children: an approach to assessment and management von Davies, Emily, Connolly, Daniel J, Mordekar, Santosh R

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Nonketotic hyperglycinemia case series von Iqbal, Mehtab, Prasad, Manish, Mordekar, Santosh R

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Neonatal hypertonia – a diagnostic challenge von Hart, Anthony R, Sharma, Ruchi, Rittey, Christopher D, Mordekar, Santosh R

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Home video telemetry in children: A comparison to inpatient video telemetry von Carlson, Sophie, Kandler, Rosalind H., Moorhouse, David, Ponnusamy, Athi, Mordekar, Santosh R., Alix, James J.P.

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Reversible Parainfectious Bilateral “Striatal Necrosis” von Nandish, Shalini, MBBS, Khan, Rafeh, MBBS, Connolly, Daniel J., MD, Rittey, Christopher D., MD, Mordekar, Santosh R., MD

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The value of long term EEG monitoring in children: A comparison of ambulatory EEG and video telemetry von Alix, James J.P, Kandler, Rosalind H, Mordekar, Santosh R

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Post‐Treatment Movement Disorder in a Child with Late‐onset Cobalamin Deficiency von Fadilah, Ala, Baxter, Peter S., Sarrigiannis, Ptolemaios G., Sengupta, Soma, Sharrard, Mark J., Mordekar, Santosh R.

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An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms von Fong, Choong YI, Osborne, John P, Edwards, Stuart W, Hemingway, Cheryl, Hancock, Eleanor, Johnson, Anthony L, Kennedy, Colin R, Kneen, Rachel, Likeman, Marcus, Lux, Andrew L, Mordekar, Santosh R, Murugan, Velayutham, Newton, Richard W, Pike, Michael, Quinn, Michael, Spinty, Stefan, Vassallo, Grace, Verity, Christopher M, Whitney, Andrea, O'Callaghan, Finbar J K

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Fifteen minute consultation: tics and Tourette syndrome von Ong, Min Tsui, Mordekar, Santosh R, Seal, Arnab

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Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency von SHARMA, RUCHI, SHARRARD, MARK J, CONNOLLY, DANIEL J, MORDEKAR, SANTOSH R

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Intracranial calcification in early infantile Krabbe disease: nothing new under the sun von LIVINGSTON, JOHN H, GRAZIANO, CLAUDIO, PYSDEN, KAREN, CROW, YANICK J, MORDEKAR, SANTOSH R, MORONI, ISABELLA, UZIEL, GRAZIELLA

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Outcome of children with hyperventilation‐induced high‐amplitude rhythmic slow activity with altered awareness von BARKER, ALEXANDER, NG, JOANNE, RITTEY, CHRISTOPHER D C, KANDLER, ROSALIND H, MORDEKAR, SANTOSH R

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Cerebral cavernous malformation: Clinical report of two families with variable phenotype associated with KRIT1 mutation von Balasubramanian, Meena, Jain, Vani, Glover, Rhona C, Robertson, Lisa K, Mordekar, Santosh R

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The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: What is the most appropriate imaging strategy? von Griffiths, Paul D., Batty, Ruth, Warren, Daniel, Hart, Anthony, Sharrard, Mark, Mordekar, Santosh R., Raghavan, Ashok, Connolly, Daniel J. A.

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Movement disorders associated with complex regional pain syndrome in children von AGRAWAL, SHAKTI K, RITTEY, CHRISTOPHER D, HARROWER, NEIL A, GODDARD, JOHN M, MORDEKAR, SANTOSH R

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