Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder

Marcella Zollino; Daniela Orteschi; Mariken Ruiter; Rolph Pfundt; Katharina Steindl; Concetta Cafiero; Stefania Ricciardi; Ilaria Contaldo; Daniela Pia Rosaria Chieffo; Domiziana Ranalli; Celeste Acquafondata; Marina Murdolo; Giuseppe Marangi; Alessia Asaro; Domenica Immacolata Battaglia

doi:10.1111/epi.12617

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder

Marcella Zollino, Daniela Orteschi, Mariken Ruiter, Rolph Pfundt, Katharina Steindl, Concetta Cafiero, Stefania Ricciardi, Ilaria Contaldo, Daniela Pia Rosaria Chieffo, Domiziana Ranalli, Celeste Acquafondata, Marina Murdolo, Giuseppe Marangi, Alessia Asaro, Domenica Immacolata Battaglia

Risultato della ricerca: Contributo in rivista › Articolo › peer review

16 Citazioni (Scopus)

Abstract

Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.

Lingua originale	Inglese
pagine (da-a)	849-857
Numero di pagine	9
Rivista	Epilepsia
Volume	55
DOI	https://doi.org/10.1111/epi.12617
Stato di pubblicazione	Pubblicato - 2014

Keywords

Adolescent
Calcium-Binding Proteins
Candidate genes
Child
Child, Preschool
Chromosomes, Human, Pair 4
Comparative Genomic Hybridization
Female
Gene Deletion
Humans
Male
Membrane Proteins
Oligonucleotide Array Sequence Analysis
Real-Time Polymerase Chain Reaction
Seizures
WHS pathogenesis
Wolf-Hirschhorn Syndrome

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10.1111/epi.12617

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Zollino, M., Orteschi, D., Ruiter, M., Pfundt, R., Steindl, K., Cafiero, C., Ricciardi, S., Contaldo, I., Chieffo, D. P. R., Ranalli, D., Acquafondata, C., Murdolo, M., Marangi, G., Asaro, A., & Battaglia, D. I. (2014). Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. Epilepsia, 55, 849-857. https://doi.org/10.1111/epi.12617

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title = "Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder",

abstract = "Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.",

keywords = "Adolescent, Calcium-Binding Proteins, Candidate genes, Child, Child, Preschool, Chromosomes, Human, Pair 4, Comparative Genomic Hybridization, Female, Gene Deletion, Humans, Male, Membrane Proteins, Oligonucleotide Array Sequence Analysis, Real-Time Polymerase Chain Reaction, Seizures, WHS pathogenesis, Wolf-Hirschhorn Syndrome, Adolescent, Calcium-Binding Proteins, Candidate genes, Child, Child, Preschool, Chromosomes, Human, Pair 4, Comparative Genomic Hybridization, Female, Gene Deletion, Humans, Male, Membrane Proteins, Oligonucleotide Array Sequence Analysis, Real-Time Polymerase Chain Reaction, Seizures, WHS pathogenesis, Wolf-Hirschhorn Syndrome",

author = "Marcella Zollino and Daniela Orteschi and Mariken Ruiter and Rolph Pfundt and Katharina Steindl and Concetta Cafiero and Stefania Ricciardi and Ilaria Contaldo and Chieffo, {Daniela Pia Rosaria} and Domiziana Ranalli and Celeste Acquafondata and Marina Murdolo and Giuseppe Marangi and Alessia Asaro and Battaglia, {Domenica Immacolata}",

year = "2014",

doi = "10.1111/epi.12617",

language = "English",

volume = "55",

pages = "849--857",

journal = "Epilepsia",

issn = "0013-9580",

publisher = "Wiley-Blackwell Publishing Ltd",

}

Zollino, M, Orteschi, D, Ruiter, M, Pfundt, R, Steindl, K, Cafiero, C, Ricciardi, S, Contaldo, I, Chieffo, DPR, Ranalli, D, Acquafondata, C, Murdolo, M, Marangi, G, Asaro, A & Battaglia, DI 2014, 'Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder', Epilepsia, vol. 55, pagg. 849-857. https://doi.org/10.1111/epi.12617

TY - JOUR

T1 - Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder

AU - Zollino, Marcella

AU - Orteschi, Daniela

AU - Ruiter, Mariken

AU - Pfundt, Rolph

AU - Steindl, Katharina

AU - Cafiero, Concetta

AU - Ricciardi, Stefania

AU - Contaldo, Ilaria

AU - Chieffo, Daniela Pia Rosaria

AU - Ranalli, Domiziana

AU - Acquafondata, Celeste

AU - Murdolo, Marina

AU - Marangi, Giuseppe

AU - Asaro, Alessia

AU - Battaglia, Domenica Immacolata

PY - 2014

Y1 - 2014

N2 - Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.

AB - Seizure disorder is one of the most relevant clinical manifestations in Wolf-Hirschhorn syndrome (WHS) and it acts as independent prognostic factor for the severity of intellectual disability (ID). LETM1, encoding a mitochondrial protein playing a role in K(+) /H(+) exchange and in Ca(2+) homeostasis, is currently considered the major candidate gene. However, whether haploinsufficiency limited to LETM1 is enough to cause epilepsy is still unclear. The main purpose of the present research is to define the 4p chromosome regions where genes for seizures reside.

KW - Adolescent

KW - Calcium-Binding Proteins

KW - Candidate genes

KW - Child

KW - Child, Preschool

KW - Chromosomes, Human, Pair 4

KW - Comparative Genomic Hybridization

KW - Female

KW - Gene Deletion

KW - Humans

KW - Male

KW - Membrane Proteins

KW - Oligonucleotide Array Sequence Analysis

KW - Real-Time Polymerase Chain Reaction

KW - Seizures

KW - WHS pathogenesis

KW - Wolf-Hirschhorn Syndrome

KW - Adolescent

KW - Calcium-Binding Proteins

KW - Candidate genes

KW - Child

KW - Child, Preschool

KW - Chromosomes, Human, Pair 4

KW - Comparative Genomic Hybridization

KW - Female

KW - Gene Deletion

KW - Humans

KW - Male

KW - Membrane Proteins

KW - Oligonucleotide Array Sequence Analysis

KW - Real-Time Polymerase Chain Reaction

KW - Seizures

KW - WHS pathogenesis

KW - Wolf-Hirschhorn Syndrome

UR - http://hdl.handle.net/10807/64780

U2 - 10.1111/epi.12617

DO - 10.1111/epi.12617

M3 - Article

SN - 0013-9580

VL - 55

SP - 849

EP - 857

JO - Epilepsia

JF - Epilepsia

ER -

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder

Abstract

Keywords

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