Results 81 to 90 of about 173,609 (136)

Moyamoya disease and alternating hemiplegia. A report of two cases

The Turkish Journal of Pediatrics, 1993
Moyamoya disease is one of the cerebrovascular disorders and is characterized by bilateral stenosis or occlusion of the distal internal carotid arteries and their main branches. Repeated ischemic episodes in children and intracranial hemorrhage in
Y Renda, K Gücüyener, H Ozen, M Topçu
doaj  

Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations

, 2017
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of ...
Guido Rubboli, Gardella, Elena, Pavlidis, Elena, Fabricius, Martin, Martin Fabricius, Elena Gardella, Møller, Rikke S; id_orcid, Hans Høgenhaven, Francesco Pisani, Høgenhaven, Hans, PISANI, Francesco, Rubboli , Guido, Gøbel Madsen, Camilla, Rubboli, Guido, Marina Nikanorova, Rikke S. Møller, Camilla Gøbel Madsen, Peter Uldall, Møller, Rikke S, Uldall, Peter, Nikanorova, Marina, Elena Pavlidis   +21 more
core   +1 more source

ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities.

, 2017
Alternating hemiplegia of childhood (AHC) is a rare and severe disorder characterized by episodes of hemiplegia and dystonia alternating in laterality, possibly associated with seizures, abnormal ocular movements, headache and hypotonia. AHC is caused by
Petrucci A., Angelini C., Gurrieri F, Giacanelli M., Neri G, Luna R., Gurrieri F., Lispi L., Neri G.   +8 more
core   +1 more source

Alternating Hemiplegia of Childhood Diagnostic Difficulties (clinical case) [PDF]

, 2017
This article describes clinical cases of a 9-month old child with a rare hereditary disease - alternating hemiplegia of childhood. Difficulties of differential diagnosis between this disease and focal epilepsy are shown.В статье представлено клиническое ...
Borovkova, N. A., Боровкова, Н. А., Vshivkov, M. I., Malov, A. G., Вшивков, М. И., Малов, А. Г.   +5 more
core  

Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not? [PDF]

Brain, 2023
Desguerre I, Aubart M, Hashimoto Y, Poirier K, Kaminska A, Alison M, Boddaert N, Munnich A, Campbell M.   +8 more
europepmc   +1 more source

First person – Diana Wall

Disease Models & Mechanisms
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping researchers promote themselves alongside their papers.
doaj   +1 more source

A Unique Ocular Motor Disorder Characterizing Alternating Hemiplegia of Childhood

, 2001
Alternating Hemiplegia of Childhood (AHC) is characterized by repeated episodes of hemiparesis or hemiplegia that alternates from side to side with subsequent attacks.
Robert A. Egan
core  

Episodic Weakness and Irritability in a Child with Developmental Delay: History is the Key!

Indian Pediatrics Case Reports
Background: We describe a 5-year-old girl with episodic weakness whose diagnosis was reached primarily with history and examination, later confirmed with genetic testing.
Cindy Ralte, Kavya Goyal, Devendra Mishra   +2 more
doaj   +1 more source

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

, 2012
Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome characterized by recurrent hemiplegic episodes and distinct neurological manifestations. AHC is usually a sporadic disorder and has unknown etiology.
Heavin, S, Ptacek, Louis, De, B, Swoboda, KJ, Tiziano, FD, Panagiotakaki, E, Fontaine, B, Hitomi, Y, Walley, NM, Gurrieri, F, Heinzen, EL   +10 more
core  

Non-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood. [PDF]

Mov Disord Clin Pract, 2022
Perulli M, Poole J, Di Lazzaro G, D'Ambrosio S, Silvennoinen K, Zagaglia S, Jiménez-Jiménez D, Battaglia D, Sisodiya SM, Balestrini S.   +9 more
europepmc   +1 more source