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Quoted phrase not found in phrase index: "Alternating hemiplegia of childhood 1"
Page 1
Alternating hemiplegia of childhood: An electroclinical study of sleep and hemiplegia.
Poole J, Zagaglia S, Demurtas R, Farrell F, Walker MC, Sisodiya SM, Balestrini S, Vivekananda U. Poole J, et al. PLoS One. 2022 Sep 30;17(9):e0268720. doi: 10.1371/journal.pone.0268720. eCollection 2022. PLoS One. 2022. PMID: 36178910 Free PMC article.
OBJECTIVE: Alternating Hemiplegia of Childhood (AHC) is characterised by paroxysmal hemiplegic episodes and seizures. Remission of hemiplegia upon sleep is a clinical diagnostic feature of AHC. We investigated whether: 1) Hemiplegic events are a …
OBJECTIVE: Alternating Hemiplegia of Childhood (AHC) is characterised by paroxysmal hemiplegic episodes and seiz …
ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Yang X, Yang X, Chen J, Li S, Zeng Q, Huang AY, Ye AY, Yu Z, Wang S, Jiang Y, Wu X, Wu Q, Wei L, Zhang Y. Yang X, et al. Clin Genet. 2019 Jul;96(1):43-52. doi: 10.1111/cge.13539. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30891744 Free PMC article.
Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. ...
Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recu …
Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhood.
Parker LE, Wallace K, Thevathasan A, Funk E, Pratt M, Thamby J, Tran L, Prange L, Uchitel J, Boggs A, Minton M, Jasien J, Nagao KJ, Richards A, Cruse B, De-Lisle Dear G, Landstrom AP, Mikati MA. Parker LE, et al. Eur J Paediatr Neurol. 2022 May;38:47-52. doi: 10.1016/j.ejpn.2022.03.007. Epub 2022 Mar 29. Eur J Paediatr Neurol. 2022. PMID: 35390560
BACKGROUND: Alternating hemiplegia of childhood (AHC) pathophysiology suggests predisposition to sedation and anesthesia complications. ...Fourteen/129 procedures (11%) manifested one or more complications (2.3% mild, 7% moderate, 1.6% severe). …
BACKGROUND: Alternating hemiplegia of childhood (AHC) pathophysiology suggests predisposition to sedation and an …
Hypothalamic-pituitary dysfunction in alternating hemiplegia of childhood.
Wallace K, Greene E, Moya-Mendez M, Freemark M, Prange L, Mikati MA. Wallace K, et al. Eur J Paediatr Neurol. 2021 May;32:1-7. doi: 10.1016/j.ejpn.2021.03.007. Epub 2021 Mar 11. Eur J Paediatr Neurol. 2021. PMID: 33756210
BACKGROUND: Many central nervous system disorders result in hypothalamic-pituitary (HP) axis dysfunction. Alternating Hemiplegia of Childhood (AHC) is usually caused by mutations in the ATP1A3 subunit of the Na(+)/K(+) ATPase, predominantly affecting G …
BACKGROUND: Many central nervous system disorders result in hypothalamic-pituitary (HP) axis dysfunction. Alternating Hemiplegia …
Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients.
Pisciotta L, Gherzi M, Stagnaro M, Calevo MG, Giannotta M, Vavassori MR, Veneselli E; I.B.AHC Consortium; De Grandis E. Pisciotta L, et al. Brain Dev. 2017 Jun;39(6):521-528. doi: 10.1016/j.braindev.2017.02.001. Epub 2017 Feb 27. Brain Dev. 2017. PMID: 28249736
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered as prophylaxis for paroxysmal attacks, however, no therapy is completely effective. ...RESULTS: Flunarizine was the most commonly used long …
BACKGROUND: Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered …
Polysomnography Findings and Sleep Disorders in Children With Alternating Hemiplegia of Childhood.
Kansagra S, Ghusayni R, Kherallah B, Gunduz T, McLean M, Prange L, Kravitz RM, Mikati MA. Kansagra S, et al. J Clin Sleep Med. 2019 Jan 15;15(1):65-70. doi: 10.5664/jcsm.7572. J Clin Sleep Med. 2019. PMID: 30621840 Free PMC article.
STUDY OBJECTIVES: Patients with alternating hemiplegia of childhood (AHC) experience bouts of hemiplegia and other paroxysmal spells that resolve during sleep. ...
STUDY OBJECTIVES: Patients with alternating hemiplegia of childhood (AHC) experience bouts of hemiplegia and oth …
Gross Motor Function Disorders in Patients with Alternating Hemiplegia of Childhood.
Stępień A, Maślanko K, Krawczyk M, Rekowski W, Kostera-Pruszczyk A. Stępień A, et al. J Mother Child. 2020 Jul 29;24(1):24-32. doi: 10.34763/jmotherandchild.2020241.1935.000003. J Mother Child. 2020. PMID: 33074178 Free PMC article.
BACKGROUND: Alternating hemiplegia of Childhood (AHC) is a rare disease manifested by transient episodes of hemiplegia and other neurological disorders. ...
BACKGROUND: Alternating hemiplegia of Childhood (AHC) is a rare disease manifested by transient episodes of hemi …
The CLDN5 gene at the blood-brain barrier in health and disease.
Hashimoto Y, Greene C, Munnich A, Campbell M. Hashimoto Y, et al. Fluids Barriers CNS. 2023 Mar 28;20(1):22. doi: 10.1186/s12987-023-00424-5. Fluids Barriers CNS. 2023. PMID: 36978081 Free PMC article. Review.
We then summarise mutagenesis-based studies which have facilitated a better understanding of the physiological role of the CLDN-5 protein at the BBB and have demonstrated the functional consequences of a recently identified pathogenic CLDN-5 missense mutation from patients with …
We then summarise mutagenesis-based studies which have facilitated a better understanding of the physiological role of the CLDN-5 protein at …
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of hemiplegia, seizures, and intellectual disability. ...Using exome sequencing, we identified the likely gen …
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by …
Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.
Sentmanat MK, Papadopoulou MT, Prange L, Fons C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Huaynate JA, Stagnaro M, Megvinov A, Patel S; IAHCRC OBSERV-AHC Study Group; Arzimanoglou A, Vavassori R, Panagiotakaki E, Mikati MA. Sentmanat MK, et al. Eur J Paediatr Neurol. 2023 Sep;46:98-107. doi: 10.1016/j.ejpn.2023.07.005. Epub 2023 Aug 4. Eur J Paediatr Neurol. 2023. PMID: 37562161
BACKGROUND: Developing methods to record Alternating Hemiplegia of Childhood (AHC) spells is essential for clinical trials and patient care. ...RESULTS: 1) Video-library training: Wilcoxon test showed improvement in caregiver identification of s …
BACKGROUND: Developing methods to record Alternating Hemiplegia of Childhood (AHC) spells is essential for clini …
29 results