Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters (Q34570567)

3 August 2017

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title

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters (English)

1 reference

3 August 2017

Samuel F Berkovic

5

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Ingrid Scheffer

series ordinal

4

object named as

Ingrid E Scheffer

1 reference

3 August 2017

2

R J McKinlay Gardner

1 reference

3 August 2017

Rita Singh

1

1 reference

PubMed ID

11903458

3 August 2017

Kathryn M Crossland

series ordinal

3

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3 August 2017

1 February 2002

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3 August 2017

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3 August 2017

43

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3 August 2017

2

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3 August 2017

127-140

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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

3 August 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Neurological aspects of del(1q) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Terminal deletion of (1)(q42) and its phenotypical manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Terminal long-arm deletion of chromosome 1 in a male infant

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Distal deletion of chromosome 1q in an adult.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

A specific syndrome due to deletion of the distal long arm of chromosome 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Monosomy and trisomy 1q44-qter in two sisters originating from a half cryptic 1q;15p translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Deletion of the distal long arm of chromosome 1: a definable syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Two cases of interstitial deletion 1p

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Partial duplication 1q: report of four patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

An apparent de novo terminal deletion of chromosome 2 (pter----p24:).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Deletion mapping: Further evidence for the location of acid phosphatase (ACP1) within 2p23

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Deletion of 2p: a cytogenetic and clinical update

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Interstitial deletion of chromosome 2 (p23p25).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Del(2q)--cause of the wrinkly skin syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Identical multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to del(2)(q32) in two sisters with intrachromosomal insertional translocation in their father

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Terminal deletion of the short arm of chromosome 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Translocation 4p-- syndrome: a general review

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Evidence that Rieger syndrome maps to 4q25 or 4q27

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Deletions of different segments of the long arm of chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Duplication (5p13 leads to pter): prenatal diagnosis and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and alpha-L-fucosidase 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Chromosome 6q deletions: a report of two additional cases and a review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Report of two cases of distal deletion of the long arm of chromosome 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Deletions of the long arm of chromosome 6: two new cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring chromosome 6: clinical and cytogenetic behaviour

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring chromosome 6: variability in phenotypic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring chromosome 6: Case report and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Severe anomalies associated with ring chromosome 7

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Chromosome deletion and multiple cartilaginous exostoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Langer-Giedion syndrome: Type II tricho-rhino-phalangeal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

The epilepsy of trisomy 9p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Terminal deletion of the long arm of chromosome 10: case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

MRI findings in a patient with partial monosomy 10p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Interstitial del(13q) associated with blindness and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Trisomy 12p and epilepsy with myoclonic absences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Trisomy 12p syndrome: a chromosomal disorder associated with generalized 3-Hz spike and wave discharges

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Transmission of ring 14 chromosome from mother to two sons

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

A ring 14 chromosome with deleted short arm

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring chromosome 14 in a mentally retarded girl.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring 14 chromosome: Association with seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

A cluster of three GABAA receptor subunit genes is deleted in a neurological mutant of the mouse p locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Angelman syndrome: correlations between epilepsy phenotypes and genotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Epilepsy in Angelman syndrome associated with chromosome 15q deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Intrachromosomal triplication of 15q11-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Cytogenetic and clinical studies in five cases of inv dup(15)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Interstitial deletion of (17)(p11.2p11.2) in nine patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Miller-Dieker syndrome: lissencephaly and monosomy 17p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Autonomic seizures versus syncope in 18q- deletion syndrome: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

A partial short arm deletion of chromosome 20:46, XY, del(20)(p11)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring 20 chromosome in a child with seizures, minor anomalies, and retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Familial ring (20) chromosomal mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Reflex seizures are frequent in patients with Down syndrome and epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Infantile spasms in down syndrome: A report of 5 cases and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Seizures in children with Down syndrome: etiology, characteristics and outcome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Neurological findings in patients with the fragile-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Fragile X syndrome: associated neurological abnormalities and developmental disabilities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Fragile-X syndrome: a particular epileptogenic EEG pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Partial deletion of the short arm of chromosome 3 (3p25----3pter). Further delineation of the clinical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

Genetics of the epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

4p- Syndrome: A Chromosomal Disorder Associated with a Particular EEG Pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2002.19498.X

10.1046/J.1528-1157.2002.19498.X

21 January 2018

Identifiers

DOI

1 reference

3 August 2017

1 reference

PubMed ID

11903458