Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families (Q48478682)

11 February 2018

title

Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families (English)

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11 February 2018

author

Paolo Aridon

7

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Antonio Gambardella

16

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Bernardo Dalla Bernardina

10

object named as

Bernardo dalla Bernardina

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author name string

Pasquale Striano

1

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Maria Luisa Lispi

2

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Elena Gennaro

3

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Francesca Madia

4

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Monica Traverso

5

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Laura Bordo

6

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Filippo Martinelli Boneschi

8

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Baldassare Barone

9

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Amedeo Bianchi

11

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Giuseppe Capovilla

12

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Pasquale De Marco

13

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Olivier Dulac

14

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Roberto Gaggero

15

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Rima Nabbout

17

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Jean-François Prud'homme

18

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Ruth Day

19

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Francesca Vanadia

20

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Marilena Vecchi

21

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Pierangelo Veggiotti

22

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Federico Vigevano

23

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Maurizio Viri

24

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Carlo Minetti

25

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Federico Zara

26

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publication date

1 June 2006

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published in

Epilepsia

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volume

47

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issue

6

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page(s)

1029-1034

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Benign familial infantile seizures

cites work

1 reference

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Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00521.X

Sodium-channel defects in benign familial neonatal-infantile seizures

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00521.X

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00521.X

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00521.X

Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00521.X

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

21 January 2018

1 reference

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A potassium channel mutation in neonatal human epilepsy

21 January 2018

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A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

21 January 2018

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A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

1 reference

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Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes

21 January 2018

1 reference

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KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

21 January 2018

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Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

21 January 2018

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

21 January 2018

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A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

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A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes

21 January 2018

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A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

21 January 2018

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Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

21 January 2018

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Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00521.X

Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2006.00521.X

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

21 January 2018

1 reference

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10.1111/J.1528-1167.2006.00521.X

21 January 2018

Identifiers

DOI

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11 February 2018

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11 February 2018