0000000001019953

AUTHOR

Naira Mustafa

showing 3 related works from this author

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

2022

Funder: Università degli Studi di Catania

BUB1B gene Epileptic seizure Microcephaly Mosaic variegated aneuploidy 1 (MVA1) syndrome Ovary cystMosaicismCell Cycle ProteinsOvary cystDermatologyGeneral MedicineSyndromeBUB1B geneProtein Serine-Threonine KinasesAneuploidyPsychiatry and Mental healthSeizuresMosaic variegated aneuploidy 1 (MVA1) syndromeMutationEpileptic seizureMicrocephalyHumansNeurology (clinical)Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
researchProduct

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.

2022

Abstract Background Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. Case presentation Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Ital…

MaleEpilepsyAlternating hemiplegia of childhood (AHC)Alternating hemiplegia of childhood (AHC) Case report Comorbidities Epilepsy GRIN2AMutation MissenseInfantHemiplegiaNeurology Behaviour and DevelopmentGRIN2AComorbiditiesCase reportMutationHumansSodium-Potassium-Exchanging ATPaseChildItalian journal of pediatrics
researchProduct

Additional file 1 of Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability

2022

Additional file 1: S1. AHC diagnostic and laboratory test. Routine laboratory examination, plasma amino acids, urine organic acids, blood lactate, pyruvate, urea, ammonia, thyroid functions, arterial blood gases (ABG), EEG, Video-EEG, MRI and MRI angiography are effective to exclude metabolic disorders and vascular diseases having the same pattern of features such as homocystinuria, organic acidurias (glutaric aciduria), urea cycle disorders (ornithine transcarbamylase deficiency, carbamoyl phosphate synthetase I deficiency, and citrullinemia) and Moyamoya disease. Diagnostic check-up may also include analysis of pterins, 5-methyltetrahydrofolate (5-MTHF) and monoamine metabolites in the ce…

researchProduct