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Child neurology

Section edited by Dimitrios Zafeiriou

This section is dedicated to all aspects of pediatric neurology. Topics of interest include, but are not limited to, pediatric neuroradiology including MRI, fetal MRI, autism, epilepsy and beta thalassemia.

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  1. Content type: Research article

    The evaluation of children with cerebral palsy (CP) focuses on activity level measurement to examine the effect of health-care interventions on their physical functioning in the home, school, and community set...

    Authors: Soojung Chae, Eun-Young Park and Yoo-Im Choi

    Citation: BMC Neurology 2018 18:151

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  2. Content type: Case report

    Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmor...

    Authors: Chien-Heng Lin, Wei-De Lin, I-Ching Chou, Inn-Chi Lee, Hueng-Chuen Fan and Syuan-Yu Hong

    Citation: BMC Neurology 2018 18:150

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  3. Content type: Research article

    Down syndrome (DS) is a common developmental disorder resulting from the presence of an additional copy of chromosome 21. Abnormalities in dopamine signaling are suggested to be involved in cognitive dysfuncti...

    Authors: Thanh Thi Mai Pham, Hiroki Kato, Haruyoshi Yamaza, Keiji Masuda, Yuta Hirofuji, Hiroshi Sato, Huong Thi Nguyen Nguyen, Xu Han, Yu Zhang, Tomoaki Taguchi and Kazuaki Nonaka

    Citation: BMC Neurology 2018 18:132

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  4. Content type: Research article

    Perinatal stroke (PS) affects up to 1/2300 infants and frequently leads to unilateral cerebral palsy (UCP). Preterm-born infants affected by unilateral haemorrhagic parenchymal infarction (HPI) are also at ris...

    Authors: Anna Purna Basu, Janice Pearse, Rose Watson, Pat Dulson, Jessica Baggaley, Blythe Wright, Denise Howel, Luke Vale, Dipayan Mitra, Nick Embleton and Tim Rapley

    Citation: BMC Neurology 2018 18:102

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  5. Content type: Case report

    Leigh Syndrome (LS, OMIM 256000) is an early-onset, progressive neurodegenerative disorder characterized by broad clinical and genetic heterogeneity; it is the most frequent disorder of mitochondrial energy pr...

    Authors: Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini and Maria Adelaide Caligo

    Citation: BMC Neurology 2018 18:99

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  6. Content type: Research article

    The treatment of cognitive deficits is challenging in pediatric onset multiple sclerosis (POMS) and in patients with attention deficit hyperactivity disorder (ADHD). We performed a pilot double-blind RCT to ev...

    Authors: Marta Simone, Rosa Gemma Viterbo, Lucia Margari and Pietro Iaffaldano

    Citation: BMC Neurology 2018 18:82

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  7. Content type: Case report

    Dyke-Davidoff-Masson syndrome is a rare condition of unknown frequency resulting from brain injury due to a multitude of causes; especially in early life. Characteristics include cerebral hemiatrophy/hypoplasi...

    Authors: Anna Misyail Abdul Rashid and Mohamad Syafeeq Faeez Md Noh

    Citation: BMC Neurology 2018 18:76

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  8. Content type: Case report

    Sarcoidosis is a multi-organ disease of unknown etiology characterised by the presence of epithelioid granulomas, without caseous necrosis. Systemic sarcoidosis is rare among children, while neurosarcoidosis i...

    Authors: Katsunori Shijo, Nobuhiro Moro, Mari Sasano, Mitsuru Watanabe, Hiroshi Yagasaki, Shori Takahashi, Taku Homma and Atsuo Yoshino

    Citation: BMC Neurology 2018 18:77

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  9. Content type: Case report

    Hopkins syndrome (HS) is a rare disorder presenting with acute flaccid paralysis of the limbs following an asthma attack. Neurologists encounter a diagnostic challenge if patients without a history of bronchia...

    Authors: Fumie Hayashi, Shintaro Hayashi, Dai Matsuse, Ryo Yamasaki, Keiji Yonekura and Jun-ichi Kira

    Citation: BMC Neurology 2018 18:71

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  10. Content type: Study protocol

    Motor outcomes of children with unilateral cerebral palsy are clearly documented and well understood, yet few studies describe the cognitive functioning in this population, and the associations between the two...

    Authors: Brian Hoare, Michael Ditchfield, Megan Thorley, Margaret Wallen, Jenny Bracken, Adrienne Harvey, Catherine Elliott, Iona Novak and Ali Crichton

    Citation: BMC Neurology 2018 18:63

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  11. Content type: Case report

    Pediatric autoimmune neuropsychiatric disorder after streptococcal infection (PANDAS) is a specific autoimmune response to group-A streptococcal infections in children and adolescents with a sudden onset of ob...

    Authors: A. H. Nave, P. Harmel, R. Buchert and L. Harms

    Citation: BMC Neurology 2018 18:60

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  12. Content type: Research article

    Acute autonomic neuropathy (AAN) is rare disorder with anecdotal report, especially for childhood onset patients. Misdiagnosis or delays in treatment can always be found in clinical practice. We conducted this...

    Authors: Ling-Yu Pang, Chang-Hong Ding, Yang-Yang Wang, Li-Ying Liu, Qiao-Jun Li and Li-Ping Zou

    Citation: BMC Neurology 2017 17:164

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  13. Content type: Research article

    Cerebral Palsy (CP) is the most common cause of motor disabilities in children and young adults and it is also often associated with cognitive and physiological challenges. Climbing requires a multifaceted rep...

    Authors: Mark Schram Christensen, Thor Jensen, Camilla B. Voigt, Jens Bo Nielsen and Jakob Lorentzen

    Citation: BMC Neurology 2017 17:112

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  14. Content type: Research article

    This qualitative study examined how individuals with Spinal Muscular Atrophy (SMA), their caregivers, and clinicians defined meaningful change, primarily in the Type II and non-ambulant type III patient popula...

    Authors: Sarah McGraw, Ying Qian, Jeff Henne, Jill Jarecki, Kenneth Hobby and Wei-Shi Yeh

    Citation: BMC Neurology 2017 17:68

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  15. Content type: Research article

    Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of ...

    Authors: Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni and Zhi-Ying Wu

    Citation: BMC Neurology 2017 17:34

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  16. Content type: Case report

    Kikuchi-Fujimoto disease is a self-limited clinicopathologic entity that is increasingly recognized worldwide. Kikuchi-Fujimoto disease is characterized by cervical lymphadenopathy occurring in young adults. N...

    Authors: Hidenori Kido, Osamu Kano, Asami Hamai, Hiroyuki Masuda, Yutaka Fuchinoue, Masaaki Nemoto, Chiaki Arai, Teppei Takeda, Fumihito Yamabe, Toshihiro Tai, Mizuki Kasahara, Kenichi Suzuki, Nobuyuki Shiraga, Sota Sadamoto, Megumi Wakayama, Yukitoshi Takahashi…

    Citation: BMC Neurology 2017 17:22

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  17. Content type: Research article

    Many aspects of pharmacological treatment of Lyme neuroborreliosis in children, such as choice of drug, dosage, and duration are subject to intense debates, leading to uncertainties in patients’ parents and he...

    Authors: Rick Dersch, Tilman Hottenrott, Stefanie Schmidt, Harriet Sommer, Hans-Iko Huppertz, Sebastian Rauer and Joerg J. Meerpohl

    Citation: BMC Neurology 2016 16:189

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  18. Content type: Research article

    As little is known of association(s) between gut microbiota profiles and host immunological markers, we explored these in children with and without multiple sclerosis (MS).

    Authors: Helen Tremlett, Douglas W. Fadrosh, Ali A. Faruqi, Janace Hart, Shelly Roalstad, Jennifer Graves, Collin M. Spencer, Susan V. Lynch, Scott S. Zamvil and Emmanuelle Waubant

    Citation: BMC Neurology 2016 16:182

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  19. Content type: Research article

    Stroke is a major complication of sickle cell anaemia (SCA). It occurs commonly in childhood with about 10 % of children with sickle cell anaemia getting affected by this complication. In Uganda, there is pauc...

    Authors: Deogratias Munube, Elly Katabira, Grace Ndeezi, Moses Joloba, Samden Lhatoo, Martha Sajatovic and James K. Tumwine

    Citation: BMC Neurology 2016 16:175

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  20. Content type: Case report

    Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause t...

    Authors: Hikaru Kanemasa, Ryoko Fukai, Yasunari Sakai, Michiko Torio, Noriko Miyake, Sooyoung Lee, Hiroaki Ono, Satoshi Akamine, Kei Nishiyama, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto and Toshiro Hara

    Citation: BMC Neurology 2016 16:174

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  21. Content type: Research article

    In children with bilateral cerebral palsy (CP) maintaining a standing position can be difficult. The fundamental motor task of standing independently is achieved by an interaction between the visual, somatosen...

    Authors: Cecilia Lidbeck, Åsa Bartonek, Priti Yadav, Kristina Tedroff, Per Åstrand, Kerstin Hellgren and Elena M. Gutierrez-Farewik

    Citation: BMC Neurology 2016 16:151

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  22. Content type: Research article

    Children and youth with non-traumatic brain injury (nTBI) are often overlooked in regard to the need for post-injury health services. This study provided population-based data on their burden on healthcare ser...

    Authors: Vincy Chan, Jason D. Pole, Michelle Keightley, Robert E. Mann and Angela Colantonio

    Citation: BMC Neurology 2016 16:110

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  23. Content type: Study protocol

    Robot assisted gait training (RAGT) is considered to be a promising approach for improving gait-related gross motor function of children and youth with cerebral palsy. However, RAGT has yet to be empirically d...

    Authors: Lesley Wiart, Rhonda J. Rosychuk and F. Virginia Wright

    Citation: BMC Neurology 2016 16:86

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  24. Content type: Case report

    Mutations in proteins involved in the glycosylphosphatidylinositol anchor biosynthesis and remodeling pathway are associated with autosomal recessive forms of intellectual disability. Recently mutations in the PG...

    Authors: Matthias Kettwig, Orly Elpeleg, Eike Wegener, Steffi Dreha-Kulaczewski, Marco Henneke, Jutta Gärtner and Peter Huppke

    Citation: BMC Neurology 2016 16:74

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  25. Content type: Research article

    Cerebral palsy (CP) is the main cause of severe physical impairment during childhood and has commonly shown oral motor association. It has been considered as the main cause of the high prevalence of problems i...

    Authors: Vanessa Vieira Pinto, Levy Anderson César Alves, Fausto M. Mendes and Ana Lídia Ciamponi

    Citation: BMC Neurology 2016 16:55

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  26. Content type: Case report

    Mutant rodent models have highlighted the importance of the ventricular ependymal cells and the subcommissural organ (a brain gland secreting glycoproteins into the cerebrospinal fluid) in the development of f...

    Authors: Eduardo Ortega, Rosa I. Muñoz, Nelly Luza, Francisco Guerra, Monserrat Guerra, Karin Vio, Roberto Henzi, Jaime Jaque, Sara Rodriguez, James P. McAllister and Esteban Rodriguez

    Citation: BMC Neurology 2016 16:45

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  27. Content type: Study protocol

    Previous studies have shown that the predictive control of movements is impaired in children with Developmental Coordination Disorder (DCD), most likely due to a deficit in the internal modeling of movements. ...

    Authors: Imke L. J. Adams, Bert Steenbergen, Jessica M. Lust and Bouwien C. M. Smits-Engelsman

    Citation: BMC Neurology 2016 16:5

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  28. Content type: Research article

    Home-based training is becoming ever more important with increasing demands on the public health systems. We investigated whether individualized and supervised interactive home-based training delivered through...

    Authors: Jakob Lorentzen, Line Z. Greve, Mette Kliim-Due, Betina Rasmussen, P. E. Bilde and Jens B. Nielsen

    Citation: BMC Neurology 2015 15:75

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  29. Content type: Research article

    Youth with spina bifida (SB) are less fit and active than other groups with childhood disability. While recent studies have shown benefits of exercise training, the increased fitness levels do not sustain or l...

    Authors: Manon AT Bloemen, Olaf Verschuren, Claudia van Mechelen, Hanneke E Borst, Arina J de Leeuw, Marsha van der Hoef and Janke F de Groot

    Citation: BMC Neurology 2015 15:11

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  30. Content type: Research article

    Minocycline, a member of the tetracycline family, has a low risk of adverse effects and an ability to improve behavioral performance in humans with cognitive disruption. We performed a single-arm open-label tr...

    Authors: Joseph C Grieco, Stephanie L Ciarlone, Maria Gieron-Korthals, Mike R Schoenberg, Amanda G Smith, Rex M Philpot, Helen S Heussler, Jessica L Banko and Edwin J Weeber

    Citation: BMC Neurology 2014 14:232

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  31. Content type: Research article

    Children with unilateral Cerebral Palsy (CP) often show diminished awareness of the remaining capacity of their affected upper limb. This phenomenon is known as Developmental Disregard (DD). DD has been explai...

    Authors: Ingar M Zielinski, Bert Steenbergen, C Marjolein Baas, Pauline BM Aarts and Marijtje LA Jongsma

    Citation: BMC Neurology 2014 14:221

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  32. Content type: Study protocol

    Cerebral palsy is the most common physical disability of childhood and early detection is possible using evidence based assessments. Systematic reviews indicate early intervention trials rarely demonstrate eff...

    Authors: Catherine Morgan, Iona Novak, Russell C Dale, Andrea Guzzetta and Nadia Badawi

    Citation: BMC Neurology 2014 14:203

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  33. Content type: Study protocol

    Cerebral palsy (CP) and brain injury (BI) are common conditions that have devastating effects on a child’s ability to use their hands. Hand splinting and task-specific training are two interventions that are o...

    Authors: Michelle Jackman, Iona Novak and Natasha Lannin

    Citation: BMC Neurology 2014 14:144

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  34. Content type: Research article

    Up to a third of children with Autism Spectrum Disorder (ASD) manifest regressive autism (R-ASD).They show normal early development followed by loss of language and social skills. Absent evidence-based therapi...

    Authors: Frank H Duffy, Aditi Shankardass, Gloria B McAnulty, Yaman Z Eksioglu, David Coulter, Alexander Rotenberg and Heidelise Als

    Citation: BMC Neurology 2014 14:70

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  35. Content type: Research article

    Assessment of arm-hand use is very important in children with cerebral palsy (CP) who encounter arm-hand problems. To determine validity and reliability of new instruments to assess actual performance, a set o...

    Authors: Ryanne JM Lemmens, Yvonne JM Janssen-Potten, Annick AA Timmermans, Anke Defesche, Rob JEM Smeets and Henk AM Seelen

    Citation: BMC Neurology 2014 14:52

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  36. Content type: Research article

    The contribution of cerebrovascular function to cognitive performance is gaining increased attention. Transcranial doppler (TCD) is portable, reliable, inexpensive and extremely well tolerated by young and cli...

    Authors: Mireille J Bakker, Jessica Hofmann, Owen F Churches, Nicholas A Badcock, Mark Kohler and Hannah AD Keage

    Citation: BMC Neurology 2014 14:43

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  37. Content type: Research article

    In a subset of children with unilateral Cerebral Palsy (CP) a discrepancy between capacity and performance of the affected upper limb can be observed. This discrepancy is known as Developmental Disregard (DD)....

    Authors: Ingar M Zielinski, Marijtje LA Jongsma, C Marjolein Baas, Pauline BM Aarts and Bert Steenbergen

    Citation: BMC Neurology 2014 14:6

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  38. Content type: Research article

    Learning Disorders (LD) are complex diseases that affect about 2-10% of the school-age population. We performed neuropsychological and psychopathological evaluation, in order to investigate comorbidity in chil...

    Authors: Lucia Margari, Maura Buttiglione, Francesco Craig, Arcangelo Cristella, Concetta de Giambattista, Emilia Matera, Francesca Operto and Marta Simone

    Citation: BMC Neurology 2013 13:198

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  39. Content type: Research article

    Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis (AFP) in the post-poliomyelitis eradication era. This is the first study done to identify the epidemiology, clinical features, ...

    Authors: Jagar Jasem, Kawa Marof, Adnan Nawar, Yosra Khalaf, Sirwan Aswad, Faisal Hamdani, Monirul Islam and Andre Kalil

    Citation: BMC Neurology 2013 13:195

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  40. Content type: Research article

    Mucopolysaccharidosis type III (MPS III) is an autosomal recessive disorder caused by deficiency of a specific enzyme leading to heparan sulfate (HS) accumulation within cells and to eventual progressive cereb...

    Authors: Svitlana Garbuzova-Davis, Santhia Mirtyl, Sebastian A Sallot, Diana G Hernandez-Ontiveros, Edward Haller and Paul R Sanberg

    Citation: BMC Neurology 2013 13:174

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  41. Content type: Research article

    The Observational Skills Assessment Score (OSAS) measures amount and quality of use of the affected hand in children with unilateral Cerebral Palsy (CP) in bimanual activities and could therefore be a valuable...

    Authors: Lucianne Speth, Yvonne Janssen-Potten, Pieter Leffers, Eugene Rameckers, Anke Defesche, Richard Geers, Rob Smeets and Hans Vles

    Citation: BMC Neurology 2013 13:152

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  42. Content type: Study protocol

    Children with congenital hemiplegia often present with limitations in using their impaired upper limb which impacts on independence in activities of daily living, societal participation and quality of life. Tr...

    Authors: Roslyn N Boyd, Jenny Ziviani, Leanne Sakzewski, Laura Miller, Joanne Bowden, Ross Cunnington, Robert Ware, Andrea Guzzetta, Richard AL Macdonell, Graeme D Jackson, David F Abbott and Stephen Rose

    Citation: BMC Neurology 2013 13:68

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  43. Content type: Case report

    West syndrome is an age-dependent epilepsy with onset peak in the first year of life whose aetiology may be symptomatic or cryptogenic. Long-term cognitive and neurological prognosis is usually poor and seizur...

    Authors: Salvatore Mangano, Rosaria Nardello, Gabriele Tripi, Giuliana Giordano, Chiara Spitaleri, Giuseppa Renata Mangano and Antonina Fontana

    Citation: BMC Neurology 2013 13:48

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  44. Content type: Technical advance

    Language comprehension requires decoding of complex, rapidly changing speech streams. Detecting changes of frequency modulation (FM) within speech is hypothesized as essential for accurate phoneme detection, a...

    Authors: Frank H Duffy, Yaman Z Eksioglu, Alexander Rotenberg, Joseph R Madsen, Aditi Shankardass and Heidelise Als

    Citation: BMC Neurology 2013 13:12

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  45. Content type: Research article

    Autism spectrum disorders (ASD) are associated with widespread alterations in white matter (WM) integrity. However, while a growing body of studies is shedding light on microstructural WM alterations in high-f...

    Authors: Lucia Billeci, Sara Calderoni, Michela Tosetti, Marco Catani and Filippo Muratori

    Citation: BMC Neurology 2012 12:148

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  46. Content type: Research article

    Hyperekplexia (HPX) is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, and non-habituati...

    Authors: Mohammed Zein Seidahmed, Mustafa A Salih, Omer B Abdulbasit, Meeralebbae Shaheed, Khalid Al Hussein, Abeer M Miqdad, Abdullah K Al Rasheed, Anas M Alazami, Ibrahim A Alorainy and Fowzan S Alkuraya

    Citation: BMC Neurology 2012 12:125

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  47. Content type: Research article

    The mammalian neurological disorder hereditary hyperekplexia can be attributed to various mutations of strychnine sensitive glycine receptors. The clinical symptoms of “startle disease” predominantly occur in ...

    Authors: Jeanne de la Roche, Martin Leuwer, Klaus Krampfl, Gertrud Haeseler, Reinhard Dengler, Vanessa Buchholz and Jörg Ahrens

    Citation: BMC Neurology 2012 12:104

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