JICNA http://jicna.org/index.php/journal <p>The Journal of the International Child Neurology Association (JICNA) is an Open Access Journal&nbsp;published by the International Child Neurology Association (ICNA), representing the Association’s official Journal. The journal aims to cover all sections of Child Neurology, Epilepsy, and Neuromuscular disorders, providing teaching, practical and professional support for clinicians dealing with neurological disorders in childhood. It publishes, after peer-review process papers concerning both clinical and basic research.</p> ICNA en-US JICNA 2410-6410 <span>Authors who publish with this journal agree to the following terms:</span><br /><br /><ol type="a"><ol type="a"><li>Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a <a href="http://creativecommons.org/licenses/by/3.0/" target="_new">Creative Commons Attribution License</a> that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.</li></ol></ol><br /><ol type="a"><ol type="a"><li>Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.</li></ol></ol><br /><ol type="a"><li>Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See <a href="http://opcit.eprints.org/oacitation-biblio.html" target="_new">The Effect of Open Access</a>).</li></ol> JICNA in 2018 http://jicna.org/index.php/journal/article/view/132 <p>2018 is the fourth year of the Journal of the International Child Neurology Association (JICNA), and continues to publish papers which are open access, without publication fees. JICNA was set up to: i) promote child neurology throughout the world, in particular encourage papers from low and middle income countries; ii) provide peer review scientifically sound papers on child neurology; iii) provide open access, so that papers can be accessed from anywhere free of charge in the world. In order to achieve these goals we ask members of ICNA contribute to making this a rigorous and vibrant journal, by submitting papers (particularly research papers), reviewing papers in a timely manner and if they have the time and energy put themselves forward as a section editor.</p> <p>There remain significant challenges in reviewing papers in timely manner and soliciting research based papers. Some reviewers are excellent, reviewing the papers quickly and thoroughly. In particular we would like to commend Professors Lieven Lagae and Jo Wilmshurst, who have reviewed more than four papers in a timely manner. We would also like to thank the following people who have reviewed papers since the start of the journal: Amina Abubakar, Banu Anlar, Harry Chugani, Paolo Curatolo, Russell Dale, Marilisa Guerreiro, Samson Gwer, Richard Idro, Symon Kariuki, Manju Kurian, Ming Lim, Lokesh Lingappa, Andrew Lux, Linda de Meirleir, Lakshmi Nagarajan, Robert Ouvrier, Raili Riikonen, Arushi Saini, Michael Shevell, Pratibha Singhi, Takao Takahashi, Ingrid Tein, Ruth Williams.</p> <p>We are still looking for section editors for the journal, who show commitment to the journal. We have suggested the following criteria: i) contribute at least two papers (one research and one review); ii) review at least two papers within 2 weeks; iii) be prepared to help people from low resource areas to analyse and write up their research; and iv) have acknowledged expertise in the area of section (reference from another person in the field). This does represent considerable commitment in terms of time and energy. Please contact us if you would like to be and can commit to be a section editor.</p> <p>Papers in JICNA can be accessed through the JICNA web site, and through CrossRef, Google Scholar and are distributed under the terms of the Creative Commons Attribution License. In 2018 we hope that JICNA will be recognised by other free search engines. &nbsp;&nbsp;</p> Charles Newton Biju A Hameed ##submission.copyrightStatement## http://creativecommons.org/licenses/by/4.0 2018-02-14 2018-02-14 Hypochondroplasia and epilepsy: the neurological spectrum of FGFR3 mutations http://jicna.org/index.php/journal/article/view/100 <p>Hypochondroplasia is a disorder caused by FGFR3 mutations, commonly featuring short limbs and stature. Thanatophoric dysplasia, achondroplasia and Muenke syndrome are genetically related conditions with skeletal dysplasia and temporal lobe dysgenesis. We present a 6-month old boy with hypochondroplasia and epilepsy. His brain MRI revealed bilateral temporal lobe dysplasia, with redundant sulci and a rotated hippocampus. The neuroimaging findings of our case provide direct insight in the pathogenesis of the cerebral dysgenesis in FGFR3-related disorders. In addition, through this case we review the neurological spectrum of FGFR3 mutations.</p> Emma A van der Poest Clement Edward Yang Ingrid Holm Jurriaan M Peters ##submission.copyrightStatement## http://creativecommons.org/licenses/by/4.0 2018-02-14 2018-02-14 Three Siblings with Progressive Encephalopathy and Destructive White Matter Lesions http://jicna.org/index.php/journal/article/view/110 <p>Intellectual disability is an important health issue, with a prevalence estimated at 1%. Autosomal genes are increasingly identified as an important cause, although still few of them are known. Most cases are of recessive origin and are found in large consanguineous families in the Middle East.&nbsp; Mutations in the <em>TRAPPC9</em> gene have been reported in different families and are associated with a nonsyndromic form of intellectual disability, although phenotypic abnormalities such as a specific facial appearance, obesity, hypotonia and consistent brain abnormalities were linked to these mutations. Here, we describe three siblings of consanguineous Algerian parents with a homozygous c.1708C&gt;T, p. Arg570* mutation in the <em>TRAPPC9</em> gene. Initially a relatively normal development was seen until the age of 12-18 months, with from then on a progressive degradation of their mental and motor state and the presence of convulsions in two of them. This, in combination with progressive white matter lesions seen on repetitive magnetic resonance imaging, suggests that this <em>TRAPPC9</em> mutation should not only be considered as a form of intellectual disability, but also as a neurodegenerative disease.</p> Helen Franckx Katriens Stouffs Tim Vanderhasselt Sara Seneca Alexander Gheldof Linda De Meirleir ##submission.copyrightStatement## http://creativecommons.org/licenses/by/4.0 2018-02-14 2018-02-14 Status Epilepticus due to Baclofen Intoxication http://jicna.org/index.php/journal/article/view/87 <p><em>Background</em>. Baclofen is a muscle relaxant agent that in toxic doses exhibits symptoms such as depressed mental status, hypotonia, hyporeflexia, and respiratory depression. Seizure is a less common presentation of Baclofen toxicity, especially in pediatric patients. <br /> <em>Case</em> <em>Description</em>. The patient was a 4 year-old boy with no previous neurologic disorder who experienced status epilepticus after ingestion of high dose of Baclofen orally. He was treated conservatively and after 8 hours, he became awake in good condition without any abnormal finding in imaging or laboratory tests.<br /> <em>Discussion. </em>This case describes some rare clinical presentations of Baclofen toxicity that were seizure and bradycardia in an otherwise-normal pediatric patient which could be managed conservatively.</p> Maryam Bahreini ##submission.copyrightStatement## http://creativecommons.org/licenses/by/4.0 2018-02-14 2018-02-14 Improvement of Symptomatic West Syndrome in a Child with Protein C Deficiency following Liver Transplantation http://jicna.org/index.php/journal/article/view/105 <p>In symptomatic West syndrome, multiple brain pathologies have been demonstrated as causal factors. Usually the epileptic spasms are intractable and the patients remain in a state of severe intellectual disability. Because adrenocorticotropic hormone (ACTH) is a standard and the most effective therapy for intractable spasms, neuro-immuno-modulatory aspects have been postulated to be involved in the pathogenesis, but details remain unclear. We here present the clinical course of a girl with West syndrome due to neonatal intracerebral hemorrhages secondary to protein C deficiency whose intractable spasms and electroencephalogram (EEG) abnormality improved dramatically after liver transplantation which included tacrolimus administration. Recently, many studies have shown that activation of calcineurin is involved in the enhancement of cortical excitability through the control of GABAergic inhibition. We speculate that tacrolimus, as a calcineurin inhibitor, may have played a role in the improvement of her spasms following liver transplantation by promoting GABAergic inhibition. This is the first report that West syndrome can be improved by tacrolimus.</p> Mariko Kasai Masatoshi Matsunami Hiroshi Terashima Akinari Fukuda Mureo Kasahara Masaya Kubota ##submission.copyrightStatement## http://creativecommons.org/licenses/by/4.0 2018-05-11 2018-05-11