Spectrum of epilepsy in terminal 1p36 deletion syndrome

Bahi‐Buisson, Nadia; Guttierrez-Delicado, Eva; Soufflet, Christine; Rio, Marlène; Cormier‐Daire, Valérie; Lacombe, Didier; Héron, Delphine; Verloes, Alain; Zuberi, Sameer M.; Bürglen, Lydie; Afenjar, Alexandra; Moutard, Marie Laure; Edery, Patrick; Novelli, Antonio; Bernardini, Laura; Dulac, Olivier; Nabbout, Rima; Plouin, Perrine; Battaglia, Agatino

doi:10.1111/j.1528-1167.2007.01424.x

Cited by 58 publications

(70 citation statements)

References 29 publications

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“…54 JAKMIP1 regulates GABRB2 mRNA, and can also be added to the list of genes involved in GABAergic synaptic function. 55 ISS in deletion 1p36 patients associated with loss of KLHL17 As past reports indicated that 25% of deletion 1p36 syndrome patients may develop ISS, 56 we wished to look closely at the gene content of deletion 1p36 subjects with ISS. The critical region(s) for ISS, and for epilepsy in general in deletion 1p36, have included GABRD and KCNAB2 30 as candidates.…”

Section: Enrichment Of Genes Involved In Ventral Forebrain Developmenmentioning

confidence: 99%

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

et al. 2011

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Infantile spasms (ISS) are an epilepsy disorder frequently associated with severe developmental outcome and have diverse genetic etiologies. We ascertained 11 subjects with ISS and novel copy number variants (CNVs) and combined these with a new cohort with deletion 1p36 and ISS, and additional published patients with ISS and other chromosomal abnormalities. Using bioinformatics tools, we analyzed the gene content of these CNVs for enrichment in pathways of pathogenesis. Several important findings emerged. First, the gene content was enriched for the gene regulatory network involved in ventral forebrain development. Second, genes in pathways of synaptic function were overrepresented, significantly those involved in synaptic vesicle transport. Evidence also suggested roles for GABAergic synapses and the postsynaptic density. Third, we confirm the association of ISS with duplication of 14q12 and maternally inherited duplication of 15q11q13, and report the association with duplication of 21q21. We also present a patient with ISS and deletion 7q11.3 not involving MAGI2. Finally, we provide evidence that ISS in deletion 1p36 may be associated with deletion of KLHL17 and expand the epilepsy phenotype in that syndrome to include early infantile epileptic encephalopathy. Several of the identified pathways share functional links, and abnormalities of forebrain synaptic growth and function may form a common biologic mechanism underlying both ISS and autism. This study demonstrates a novel approach to the study of gene content in subjects with ISS and copy number variation, and contributes further evidence to support specific pathways of pathogenesis.

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Section: Enrichment Of Genes Involved In Ventral Forebrain Developmenmentioning

confidence: 99%

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

et al. 2011

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“…Early epilepsy is a frequent finding with infantile spasms contributing to a poor clinical outcome. 19 …”

Section: Recognizable Syndromesmentioning

confidence: 97%

“…Notes and references [19][20][21][22][23][24][25][26][27][28][29][30] 1p36 deletion Distinctive facial features. Often have structural brain abnormalities, congenital heart defects, eye/ vision problems, hearing loss, skeletal anomalies, abnormalities of the external genitalia, and renal abnormalities.…”

Section: Recognizable Syndromesmentioning

confidence: 99%

A genetic diagnostic approach to infantile epileptic encephalopathies

Kamien

Cardamone

Lawson

et al. 2012

Journal of Clinical Neuroscience

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“…Alrededor de los 5 meses de edad, 20 de ellos presentaron espasmos infantiles con hipsarritmia. 8 Los niños con esta deleción cromosómica tienen facies peculiar, retardo mental moderado-grave, e hipotonía con impedimentos motores y del lenguaje.…”

Section: Síndrome Epiléptico Tratamientounclassified

Etiologías genéticas asociadas con epilepsias graves del lactante

Fejerman¹

2012

Arch Argent Pediat

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RESUMENLas epilepsias graves asociadas con etiologías genéticas, por anomalías cromosómicas o por mutaciones génicas comienzan en los dos primeros años de vida. Pueden presentar el fenotipo clínico-electroencefalográfico de las encefalopatías epilépticas, aunque muchos no se pueden incluir en categorías conocidas. Algunas anomalías cromosómicas, con fenotipo físico o sin él, se asocian a encefalopatías epilép-ticas en lactantes. En pacientes con enfermedad metabólica o estructural cerebral de etiología genética, las crisis epilépticas no constituyen la úni-ca manifestación. Se enfatiza el reconocimiento de nuevas mutaciones génicas en lactantes con crisis epilépticas refractarias a la medicación habitual, con imágenes cerebrales, estudios neurometabólicos y cariotipos convencionales normales. Se comentan nuevas técnicas de genética molecular -la hibridación genómica comparativa-para identificar variaciones en el número de copias y la eventual secuenciación de los genes buscados. El concepto válido para pediatras y neurólogos infantiles es que mutaciones en un mismo gen pueden provocar distintos síndromes epilépticos, y un síndrome epiléptico puede ser provocado por mutaciones en distintos genes. Palabras clave: epilepsias graves, encefalopatías epilépticas, cromosomopatías, enfermedades genéti-cas, lactantes. SUMMARYThis is an update on severe epilepsies in infancy that are associated with genetic etiologies, either chromosomal abnormalities or gene mutations. These severe epilepsies may present the clinical and electroencephalographic phenotype of the so called epileptic encephalopathies, although a significant number of cases do not comply with the criteria to be included among the already known categories, as classified by the International League Against Epilepsy. Several chromosomal abnormalities, with or without a characteristic physical phenotype, are associated with epileptic encephalopathies in infants. Many patients are affected by metabolic or structural cerebral diseases of genetic etiology, in which seizures are not the only manifestation. Inborn errors of metabolism, deficiencies in cerebral transporters, mitochondrial encephalopathies, several neuroectodermosis, and part of the brain malformations and disorders of cortical development are examples. Recognition of new gene mutations in infants with epileptic encephalopathies or other severe epilepsies whose brain imaging studies, neuro- Correspondencia:Dr. Natalio Fejerman: natalio@fejerman.com Conflicto de intereses:Ninguno que declarar.Recibido: 3-7-2012 Aceptado: 8-8-2012 metabolic screenings and conventional cariotypes are normal, is emphasized in this review. An algorhythm for diagnosis and treatment of neonatal seizures with no determined etiology is also included. Finally, the new molecular genetics techniques applied in the diagnostic approach of these conditions, such as Array Comparative Genomic Hybridization, the identification of copy number variations and the eventual sequencing of genes, are commented but not described. The concept fo...

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Spectrum of epilepsy in terminal 1p36 deletion syndrome

Cited by 58 publications

References 29 publications

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

A genetic diagnostic approach to infantile epileptic encephalopathies

Etiologías genéticas asociadas con epilepsias graves del lactante

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