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ArticlesPeer ReviewedFull Text
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis
Author / Creator:Chen, Xin ; Yin, Wu ; Chen, Siyi ; Zhang, Wenyu ; Li, Hongyan ; Kuang, Hanzhe ; Zhou, Miaojin ; Teng, Yanling ; Zhang, Junlong ; Shen, Guodong ; Liang, Desheng ; Li, Zhuo ; Hu, Bing ; Wu, Lingqian
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-05, Vol.140 (5), p.791-803
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Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy
Author / Creator:Gertler, Tracy S. ; Thompson, Christopher H. ; Vanoye, Carlos G. ; Millichap, John J. ; George, Alfred L.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1606-1615
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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
Author / Creator:Cartault, François ; Munier, Patrick ; Benko, Edgar ; Desguerre, Isabelle ; Hanein, Sylvain ; Boddaert, Nathalie ; Bandiera, Simonetta ; Vellayoudom, Jeanine ; Krejbich-Trotot, Pascale ; Bintner, Marc ; Hoarau, Jean-Jacques ; Girard, Muriel ; Génin, Emmanuelle ; de Lonlay, Pascale ; Fourmaintraux, Alain ; Naville, Magali ; Rodriguez, Diana ; Feingold, Josué ; Renouil, Michel ; Munnich, Arnold ; Westhof, Eric ; Fähling, Michael ; Lyonnet, Stanislas ; Henrion-Caude, Alexandra
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-03, Vol.109 (13), p.4980-4985
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Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance
Author / Creator:Duszyc, Kinga ; Terczynska, Iwona ; Hoffman-Zacharska, Dorota
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of applied genetics, 2015-02, Vol.56 (1), p.49-56
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Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
Author / Creator:Nishimura, Naoto ; Kumaki, Tatsuro ; Murakami, Hiroaki ; Enomoto, Yumi ; Katsumata, Kaoru ; Toyoshima, Katsuaki ; Kurosawa, Kenji
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2020-09, Vol.7 (1), p.29-29, Article 29
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ArticlesPeer ReviewedFull Text
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
Author / Creator:Nishimura, Naoto ; Kumaki, Tatsuro ; Murakami, Hiroaki ; Enomoto, Yumi ; Katsumata, Kaoru ; Toyoshima, Katsuaki ; Kurosawa, Kenji
Publisher:England
Journal title:Human genome variation, 2020-09, Vol.7 (1), p.29
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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
Author / Creator:Rosas-Vargas, H ; Bahi-Buisson, N ; Philippe, C ; Nectoux, J ; Girard, B ; N’Guyen Morel, M A ; Gitiaux, C ; Lazaro, L ; Odent, S ; Jonveaux, P ; Chelly, J ; Bienvenu, T
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2008-03, Vol.45 (3), p.172-178
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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
Author / Creator:Gabaldon-Albero, Alba ; Martin-Grau, Carla ; Marti-Masanet, Miguel ; Lopez-Jimenez, Alejandro ; Llorens, Roberto ; Beseler-Soto, Beatriz ; Martin-Zamora, Sergio ; Lopez, Berta ; Calvo, Inmaculada ; Hernandez-Muela, Sara ; Rosello, Monica ; Orellana, Carmen ; Martinez, Francisco
Publisher:England: BioMed Central Ltd
Journal title:Pediatric rheumatology online journal, 2024-12, Vol.22 (1), p.110-7, Article 110
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A disease spectrum for ITPA variation: advances in biochemical and clinical research
Author / Creator:Burgis, Nicholas E
Publisher:England: BioMed Central Ltd
Journal title:Journal of biomedical science, 2016-10, Vol.23 (1), p.73, Article 73
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Observation on therapeutic effect in treatment of hypoxemic infantile encephalopathy by acupuncture plus hyperbaric oxygen
Author / Creator:Liu, Jin ; Guo, Feng
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of acupuncture and tuina science, 2006-10, Vol.4 (5), p.293-295
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Newsletter articlesFull Text
Research from Nil Ratan Sircar Medical College and Hospital Provides New Study Findings on Seizures (Early Myoclonic Infantile Encephalopathy in Neonate Caused by 5-Oxoprolinuria, a Rare Metabolic Ent...
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2023, p.5428
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ArticlesFull Text
Study Findings from Pediatric Neurology Unit Broaden Understanding of Epilepsy (Clinical Findings in a Patient with FARS2 Mutations and Early-Infantile-Encephalopathy with Epilepsy)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2016-12, p.3862
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ArticlesFull Text
Findings from University of Parma Provides New Data about Human Genetics (Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2016-10, p.843
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ArticlesFull Text
New Magnetic Resonance Imaging and Genetics Findings from Vrije University Described (Recessive ITPA Mutations Cause an Early Infantile Encephalopathy)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2015-11, p.1069
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ArticlesPeer ReviewedFull Text
Aicardi-Goutières syndrome: A cause of CSF chronic hyperlymphocytosis
Author / Creator:Akopova-Larbi, Rosana ; Turki, Ilhem Ben Youssef ; Kraoua, Ichraf ; Gouider-Khouja, Neziha
Publisher:New York: Georg Thieme Verlag KG
Journal title:Journal of pediatric neurology, 2010-12, Vol.8 (4), p.411-415
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Newsletter articlesFull Text
Genetics; Findings from University of Parma Provides New Data about Human Genetics (Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy)
Publisher:Atlanta: NewsRx
Journal title:Obesity, Fitness & Wellness Week, 2016, p.843
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Newsletter articlesFull Text
Succinic Semialdehyde Dehydrogenase Deficiency; Data from Children's Hospital Provide New Insights into Succinic Semialdehyde Dehydrogenase Deficiency (Acute Infantile Encephalopathy as Presentation o...
Publisher:Atlanta: NewsRx
Journal title:Pediatrics Week, 2016, p.72
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ArticlesFull Text
The impact of kinetotherapy in the improvement of functional capacity and self care of children with Sechelar Infantile Encephalopathy
Author / Creator:Petrache, Ada ; Lozinca, Izabela ; Sîrbu, Elena
Publisher:Timisoara: West University of Timisoara
Journal title:Timisoara Physical Education and Rehabilitation Journal, 2009-01, Vol.1 (2), p.55
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Newsletter articlesFull Text
Central Nervous System Diseases and Conditions - Epilepsy; Study Findings from Pediatric Neurology Unit Broaden Understanding of Epilepsy (Clinical Findings in a Patient with FARS2 Mutations and Early...
Publisher:Atlanta: NewsRx
Journal title:Obesity, Fitness & Wellness Week, 2016, p.3862
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Newsletter articlesFull Text
Subcellular Fractions; New Data from Children's Hospital Illuminate Findings in Subcellular Fractions (Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxi...
Publisher:Atlanta: NewsRx
Journal title:Life Science Weekly, 2016, p.1923
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Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis

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Functional consequences of a KCNT1 variant associated with status dystonicus and early‐onset infantile encephalopathy

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Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

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Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance

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Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

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Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy

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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period

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A disease spectrum for ITPA variation: advances in biochemical and clinical research

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Observation on therapeutic effect in treatment of hypoxemic infantile encephalopathy by acupuncture plus hyperbaric oxygen

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Research from Nil Ratan Sircar Medical College and Hospital Provides New Study Findings on Seizures (Early Myoclonic Infantile Encephalopathy in Neonate Caused by 5-Oxoprolinuria, a Rare Metabolic Ent...

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Study Findings from Pediatric Neurology Unit Broaden Understanding of Epilepsy (Clinical Findings in a Patient with FARS2 Mutations and Early-Infantile-Encephalopathy with Epilepsy)

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Findings from University of Parma Provides New Data about Human Genetics (Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy)

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New Magnetic Resonance Imaging and Genetics Findings from Vrije University Described (Recessive ITPA Mutations Cause an Early Infantile Encephalopathy)

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Aicardi-Goutières syndrome: A cause of CSF chronic hyperlymphocytosis

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Genetics; Findings from University of Parma Provides New Data about Human Genetics (Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy)

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Succinic Semialdehyde Dehydrogenase Deficiency; Data from Children's Hospital Provide New Insights into Succinic Semialdehyde Dehydrogenase Deficiency (Acute Infantile Encephalopathy as Presentation o...

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The impact of kinetotherapy in the improvement of functional capacity and self care of children with Sechelar Infantile Encephalopathy

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Central Nervous System Diseases and Conditions - Epilepsy; Study Findings from Pediatric Neurology Unit Broaden Understanding of Epilepsy (Clinical Findings in a Patient with FARS2 Mutations and Early...

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Subcellular Fractions; New Data from Children's Hospital Illuminate Findings in Subcellular Fractions (Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxi...

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