Article

Hemiconvulsion-Hemiplegia-Epilepsy syndrome with 5q33.3q34 microdeletion: causal or chance association

2021-02-18

Abstract excerpt

<title>Abstract</title> <p>Background Hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome is a rare syndrome characterized by childhood onset partial motor convulsions, hemiplegia, and epilepsy in sequence. Exact pathogenesis is not clear. Case presentation: We present a girl with global developmental delay with history and brain MRI consistent with the diagnosis of HHE syndrome. The cytogenetic microarray (CMA)...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 26f81226-a5de-5134-ae35-fa3d5d698168
DOI: 10.21203/rs.3.rs-190720/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Hemiconvulsion-Hemiplegia-Epilepsy syndrome with 5q33.3q34 microdeletion: causal or chance associationDOI 10.21203/rs.3.rs-190720/v1Read

Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association.Semantic proximity Read

Epilepsy and malformations of cortical development: new developments.Semantic proximity Read

[Genetics and clinical phenotypes of epilepsy associated with chromosome 2q24.3 microdeletion].Semantic proximity Read

The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene MutationSemantic proximity Read

[PCDH19 gene mutations lead to epilepsy with mental retardation limited to females in 2 cases and literature review].Semantic proximity Read

The phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy.Semantic proximity Read

Hemimegalencephaly with Seizure: A Rare Congenital Malformation in a 22 months Old BoySemantic proximity Read

Etiopathogenetic advances and management of holoprosencephaly: from bench to bedside.Semantic proximity Read

Microdeletions excluding <i>YWHAE</i> and <i>PAFAH1B1</i> cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrumSemantic proximity Read

Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I).Semantic proximity Read

Relationship Between NDEL1 Anomaly, Lissencephaly, and Developmental Delay: A Case ReportSemantic proximity Read

Dyke-Davidoff-Masson Syndrome in a Tanzanian patient: A case reportSemantic proximity Read