Results 81 to 90 of about 165,991,670 (135)

Adult‐Onset Acute Cerebellar Ataxia with Preceding Essential Tremor‐like Syndrome Associated with a Novel Variant in ATP1A3

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 832-834, March 2026.
Lukas Gattermeyer‐Kell, Sebastian Franthal, Maria Tscherner, Mariella Kögl, Petra Katschnig‐Winter, Christian Windpassinger, Petra Schwingenschuh   +6 more
wiley   +1 more source

Alternating hemiplegia of childhood: First South African case report and verapamil as a possible treatment option [PDF]

, 2019
In this case report we describe a child with alternating hemiplegia of childhood, a rare neurodevelopmental disorder, and the effectiveness of an unconventional drug, verapamil, in treating this ...
Michaelis, Ia, van Hillegondsberg, L.S., Michaelis, I.A., Van Hillegondsberg, LS   +3 more
core   +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  

Alternating Hemiplegia of Childhood: Report of Two Cases [PDF]

, 2018
Alternating hemiplegia of childhood (AHC) is a rare disorder which presents before 18 months of age characterized by repeated attacks of hemiplegia involving either side of the body, paroxysmal disturbances,developmental delay and learning disability ...
Kanij Fatema, Shaheen Akter, Md Tanvir Islam, Suraiya Begum, Md Mizanur Rahman   +4 more
core   +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  

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  

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

The present state analysis and support of alternating hemiplegia of childhood [PDF]

, 2010
departmental bulletin ...
297, 298, 299, 蔀, 優希奈, 江頭, 伸昭, 松本, 禎明   +5 more
core  

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

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