LIVIVO - Search results -

Search results

Result 1 - 10 of total 101

Search options

Article ; Online: The epilepsy-movement disorder phenotypic spectrum and phenytoin-induced dyskinesia associated with GABRB3 pathogenic variants.

Marefi, Amaar / Srour, Myriam

Epileptic disorders : international epilepsy journal with videotape

2021 Volume 23, Issue 6, Page(s) 947–950

MeSH term(s)	Dyskinesia, Drug-Induced/epidemiology ; Dyskinesia, Drug-Induced/genetics ; Epilepsy/drug therapy ; Epilepsy/genetics ; Humans ; Movement Disorders/genetics ; Phenytoin/adverse effects ; Receptors, GABA-A/genetics
Chemical Substances	GABRB3 protein, human ; Receptors, GABA-A ; Phenytoin (6158TKW0C5)
Language	English
Publishing date	2021-10-20
Publishing country	France
Document type	Journal Article
ZDB-ID	2086797-9
ISSN	1950-6945 ; 1294-9361
ISSN (online)	1950-6945
ISSN	1294-9361
DOI	10.1684/epd.2021.1343
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 5740: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 252: Show issues
Zs.MN 11: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: An in-frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D-related neurodevelopmental disorder.

Alhajaj, Ghadd / Lacroix, Caroline / Trakadis, Yannis / Garfinkle, Jarred / Srour, Myriam

American journal of medical genetics. Part A

2023 Volume 191, Issue 9, Page(s) 2416–2421

Abstract: Heterozygous pathogenic variants in PPP2R5D gene are associated with PPP2R5D-related neurodevelopmental disorder, a rare autosomal dominant condition, characterized by neurodevelopmental impairment in childhood, macrocephaly/megalencephaly, hypotonia, ... ...

Abstract	Heterozygous pathogenic variants in PPP2R5D gene are associated with PPP2R5D-related neurodevelopmental disorder, a rare autosomal dominant condition, characterized by neurodevelopmental impairment in childhood, macrocephaly/megalencephaly, hypotonia, epilepsy, and dysmorphic features. Up-to-date, only approximately 100 cases have been published in the literature and the full phenotypic and genotypic spectrum have not yet been fully described. PPP2R5D gene encodes the B56δ subunit of the PP2A enzyme complex. We describe a neonatal form of PPP2R5D-related disorder with early infantile death, caused by a novel in-frame deletion causing loss of 8 amino acids and insertion of serine at position 201 (p.Phe194_Pro201delinsSer) of the B56δ subunit. This deletion is predicted to disrupt a critical acidic loop of amino acids important for binding other subunits of the PP2A enzyme complex, and harbors many of the residues previously reported to cause a mild-moderate form of this condition. This report describes a neonatal lethal presentation of the PPP2R5D-related neurodevelopmental disorder and provides additional evidence that disruption of the acidic loop is an important pathomechanism underlying PPP2R5D-related disorder.
MeSH term(s)	Infant, Newborn ; Humans ; Neurodevelopmental Disorders/genetics ; Amino Acids ; Genotype ; Protein Phosphatase 2/genetics
Chemical Substances	Amino Acids ; PPP2R5D protein, human ; Protein Phosphatase 2 (EC 3.1.3.16)
Language	English
Publishing date	2023-05-30
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63307
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1376/A: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.

Malta, Maísa / AlMutiri, Rowim / Martin, Christine Saint / Srour, Myriam

Children (Basel, Switzerland)

2023 Volume 10, Issue 4

Abstract: Holoprosencephaly (HPE) is the most common malformation of the prosencephalon in humans. It is characterized by a continuum of structural brain anomalies resulting from the failure of midline cleavage of the prosencephalon. The three classic subtypes of ... ...

Abstract	Holoprosencephaly (HPE) is the most common malformation of the prosencephalon in humans. It is characterized by a continuum of structural brain anomalies resulting from the failure of midline cleavage of the prosencephalon. The three classic subtypes of HPE are alobar, semilobar and lobar, although a few additional categories have been added to this original classification. The severity of the clinical phenotype is broad and usually mirrors the radiologic and associated facial features. The etiology of HPE includes both environmental and genetic factors. Disruption of sonic hedgehog (SHH) signaling is the main pathophysiologic mechanism underlying HPE. Aneuploidies, chromosomal copy number variants and monogenic disorders are identified in a large proportion of HPE patients. Despite the high postnatal mortality and the invariable presence of developmental delay, recent advances in diagnostic methods and improvements in patient management over the years have helped to increase survival rates. In this review, we provide an overview of the current knowledge related to HPE, and discuss the classification, clinical features, genetic and environmental etiologies and management.
Language	English
Publishing date	2023-03-30
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2732685-8
ISSN	2227-9067
ISSN	2227-9067
DOI	10.3390/children10040647
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.

AlMutiri, Rowim / Malta, Maisa / Shevell, Michael I / Srour, Myriam

Children (Basel, Switzerland)

2023 Volume 10, Issue 3

Abstract: Global Developmental Delay (GDD) and Intellectual Disability (ID) are two of the most common presentations encountered by physicians taking care of children. GDD/ID is classified into non-syndromic GDD/ID, where GDD/ID is the sole evident clinical ... ...

Abstract	Global Developmental Delay (GDD) and Intellectual Disability (ID) are two of the most common presentations encountered by physicians taking care of children. GDD/ID is classified into non-syndromic GDD/ID, where GDD/ID is the sole evident clinical feature, or syndromic GDD/ID, where there are additional clinical features or co-morbidities present. Careful evaluation of children with GDD and ID, starting with detailed history followed by a thorough examination, remain the cornerstone for etiologic diagnosis. However, when initial history and examination fail to identify a probable underlying etiology, further genetic testing is warranted. In recent years, genetic testing has been shown to be the single most important diagnostic modality for clinicians evaluating children with non-syndromic GDD/ID. In this review, we discuss different genetic testing currently available, review common underlying copy-number variants and molecular pathways, explore the recent evidence and recommendations for genetic evaluation and discuss an approach to the diagnosis and management of children with non-syndromic GDD and ID.
Language	English
Publishing date	2023-02-21
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2732685-8
ISSN	2227-9067
ISSN	2227-9067
DOI	10.3390/children10030414
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Diagnostic Approach to Cerebellar Hypoplasia.

Accogli, Andrea / Addour-Boudrahem, Nassima / Srour, Myriam

Cerebellum (London, England)

2021 Volume 20, Issue 4, Page(s) 631–658

Abstract: Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape. CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical characteristics, and neurodevelopmental outcomes, challenging ... ...

Abstract	Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape. CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical characteristics, and neurodevelopmental outcomes, challenging physicians evaluating children with CH. Traditionally, neuroimaging has been a key tool to categorize CH based on the pattern of cerebellar involvement (e.g., hypoplasia of cerebellar vermis only vs. hypoplasia of both the vermis and cerebellar hemispheres) and the presence of associated brainstem and cerebral anomalies. With the advances in genetic technologies of the recent decade, many novel CH genes have been identified, and consequently, a constant updating of the literature and revision of the classification of cerebellar malformations are needed. Here, we review the current literature on CH. We propose a systematic approach to recognize specific neuroimaging patterns associated with CH, based on whether the CH is isolated or associated with posterior cerebrospinal fluid anomalies, specific brainstem or cerebellar malformations, brainstem hypoplasia with or without cortical migration anomalies, or dysplasia. The CH radiologic pattern and clinical assessment will allow the clinician to guide his investigations and genetic testing, give a more precise diagnosis, screen for associated comorbidities, and improve prognostication of associated neurodevelopmental outcomes.
MeSH term(s)	Cerebellar Diseases/diagnostic imaging ; Cerebellum/abnormalities ; Cerebellum/diagnostic imaging ; Child ; Developmental Disabilities/diagnosis ; Humans ; Magnetic Resonance Imaging ; Nervous System Malformations/diagnostic imaging ; Nervous System Malformations/genetics
Language	English
Publishing date	2021-02-03
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2112586-7
ISSN	1473-4230 ; 1473-4222
ISSN (online)	1473-4230
ISSN	1473-4222
DOI	10.1007/s12311-020-01224-5
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 5795: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants.

Sahly, Ahmed N / Srour, Myriam / Buhas, Daniela / Scheffer, Ingrid E / Myers, Kenneth A

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

2023 Volume 44, Page(s) 46–50

Abstract: Background: Wiedemann-Steiner Syndrome (WSTS) is a rare chromatinopathy caused by pathogenic variants in KMT2A. WSTS is characterized by neurodevelopmental disorders and distinct dysmorphic features. Epilepsy has been reported in only 33 individuals ... ...

Abstract	Background: Wiedemann-Steiner Syndrome (WSTS) is a rare chromatinopathy caused by pathogenic variants in KMT2A. WSTS is characterized by neurodevelopmental disorders and distinct dysmorphic features. Epilepsy has been reported in only 33 individuals with WSTS, with only limited clinical details described. Methods: We identified patients with pathogenic KMT2A variants and epilepsy, and performed thorough phenotyping. Results: Five patients were identified, all of whom presented with developmental and epileptic encephalopathy (DEE). Epilepsy syndromes observed included Lennox-Gastaut syndrome [2], infantile epileptic spasms syndrome, and DEE with spike-wave activation in sleep. Seizure types observed included absence, generalized tonic-clonic, myoclonic, tonic, atonic, epileptic spasms, and focal seizures. Conclusions: The spectrum of epilepsy phenotypes in patients with WSTS can be broad, but presentation is typically severe, usually involving a form of DEE.
MeSH term(s)	Humans ; Epilepsies, Myoclonic/genetics ; Electroencephalography ; Intellectual Disability ; Seizures ; Spasms, Infantile/genetics ; Spasm
Language	English
Publishing date	2023-04-14
Publishing country	England
Document type	Journal Article
ZDB-ID	1397146-3
ISSN	1532-2130 ; 1090-3798
ISSN (online)	1532-2130
ISSN	1090-3798
DOI	10.1016/j.ejpn.2023.04.001
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 4867: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 641: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.

Alsubhi, Sarah / Berrahmoune, Saoussen / Dudley, Roy W R / Dufresne, David / Simard Tremblay, Elisabeth / Srour, Myriam / Myers, Kenneth A

Journal of neurology

2024 Volume 271, Issue 5, Page(s) 2503–2508

Abstract: We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery ... ...

Abstract	We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This single-center retrospective study reviewed the charts of all pediatric patients referred for epilepsy surgery evaluation over a 5-year period. We extracted and analyzed results of genetic testing as well as clinical, EEG, and neuroimaging data. Of 125 patients referred for epilepsy surgical evaluation, 86 (69%) had some form of genetic testing. Of these, 18 (21%) had a pathogenic or likely pathogenic variant identified. Genes affected included NPRL3 (3 patients, all related), TSC2 (3 patients), KCNH1, CHRNA4, SPTAN1, DEPDC5, SCN2A, ARX, SCN1A, DLG4, and ST5. One patient had ring chromosome 20, one a 7.17p12 duplication, and one a 15q13 deletion. In six patients, suspected epileptogenic lesions were identified on brain MRI that were thought to be unrelated to the genetic finding. A specific medical therapy choice was allowed due to genetic diagnosis in three patients who did not undergo surgery. Obtaining a molecular diagnosis may dramatically alter management in pediatric patients with drug-resistant focal epilepsy. Genetic testing should be incorporated as part of standard investigations in the pre-surgical work-up of pediatric patients with drug-resistant focal epilepsy.
MeSH term(s)	Humans ; Child ; Drug Resistant Epilepsy/genetics ; Drug Resistant Epilepsy/surgery ; Drug Resistant Epilepsy/diagnostic imaging ; Male ; Female ; Genetic Testing ; Retrospective Studies ; Adolescent ; Child, Preschool ; Infant ; Electroencephalography ; Magnetic Resonance Imaging ; Epilepsies, Partial/genetics ; Epilepsies, Partial/surgery ; Epilepsies, Partial/diagnostic imaging ; Epilepsies, Partial/diagnosis ; Preoperative Care
Language	English
Publishing date	2024-01-23
Publishing country	Germany
Document type	Journal Article
ZDB-ID	187050-6
ISSN	1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
ISSN (online)	1432-1459
ISSN	0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
DOI	10.1007/s00415-023-12174-3
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui II Zs.40: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis.

Accogli, Andrea / Srour, Myriam

Neurology

2018 Volume 90, Issue 20, Page(s) e1832–e1833

MeSH term(s)	Cerebellar Diseases/complications ; Cerebellar Diseases/diagnostic imaging ; Child, Preschool ; Head/diagnostic imaging ; Head/physiopathology ; Humans ; Magnetic Resonance Imaging ; Male ; Stereotyped Behavior/physiology ; Video Recording
Language	English
Publishing date	2018-04-17
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000005531
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui II Zs.153: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MG 18: Show issues
Zs.MO 374: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Neurogenesis, neuronal migration, and axon guidance.

Accogli, Andrea / Addour-Boudrahem, Nassima / Srour, Myriam

Handbook of clinical neurology

2020 Volume 173, Page(s) 25–42

Abstract: Development of the central nervous system (CNS) is a complex, dynamic process that involves a precisely orchestrated sequence of genetic, environmental, biochemical, and physical factors from early embryonic stages to postnatal life. Duringthe past ... ...

Abstract	Development of the central nervous system (CNS) is a complex, dynamic process that involves a precisely orchestrated sequence of genetic, environmental, biochemical, and physical factors from early embryonic stages to postnatal life. Duringthe past decade, great strides have been made to unravel mechanisms underlying human CNS development through the employment of modern genetic techniques and experimental approaches. In this chapter, we review the current knowledge regarding the main developmental processes and signaling mechanisms of (i) neurogenesis, (ii) neuronal migration, and (iii) axon guidance. We discuss mechanisms related to neural stem cells proliferation, migration, terminal translocation of neuronal progenitors, and axon guidance and pathfinding. For each section, we also provide a comprehensive overview of the underlying regulatory processes, including transcriptional, posttranscriptional, and epigenetic factors, and a myriad of signaling pathways that are pivotal to determine the fate of neuronal progenitors and newly formed migrating neurons. We further highlight how impairment of this complex regulating system, such as mutations in its core components, may cause cortical malformation, epilepsy, intellectual disability, and autism in humans. A thorough understanding of normal human CNS development is thus crucial to decipher mechanisms responsible for neurodevelopmental disorders and in turn guide the development of effective and targeted therapeutic strategies.
MeSH term(s)	Axon Guidance ; Cell Movement ; Humans ; Neurogenesis ; Neurons ; Signal Transduction
Language	English
Publishing date	2020-09-21
Publishing country	Netherlands
Document type	Journal Article ; Review
ISSN	0072-9752
ISSN	0072-9752
DOI	10.1016/B978-0-444-64150-2.00004-6
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Teaching NeuroImages: CLOVES Syndrome.

Collins, Meagan / Krochmalnek, Eric / Alsubhi, Sarah / Srour, Myriam

Neurology

2020 Volume 96, Issue 10, Page(s) e1487–e1488

MeSH term(s)	Adolescent ; Brain/abnormalities ; Class I Phosphatidylinositol 3-Kinases/genetics ; Drug Resistant Epilepsy/etiology ; Drug Resistant Epilepsy/surgery ; Face/abnormalities ; Humans ; Lipoma/diagnostic imaging ; Magnetic Resonance Imaging ; Male ; Musculoskeletal Abnormalities/diagnostic imaging ; Mutation/genetics ; Neuroimaging ; Nevus/diagnostic imaging ; Thorax/abnormalities ; Vascular Malformations/diagnostic imaging
Chemical Substances	Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) ; PIK3CA protein, human (EC 2.7.1.137)
Language	English
Publishing date	2020-12-01
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000010856
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui II Zs.153: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MG 18: Show issues
Zs.MO 374: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito