Clinical and genetic characteristics of patients with Doose syndrome (Q99351948)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32913952%20AND%20SRC:MED&resulttype=core&format=json

15 September 2020

title

Clinical and genetic characteristics of patients with Doose syndrome (English)

1 reference

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myoclonic astatic epilepsy

15 September 2020

main subject

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6

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15 September 2020

Naomichi Matsumoto

32

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15 September 2020

Mitsuhiro Kato

33

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15 September 2020

author name string

Nodoka Hinokuma

1

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15 September 2020

Mitsuko Nakashima

2

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15 September 2020

Hideyuki Asai

3

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15 September 2020

Kazuyuki Nakamura

4

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15 September 2020

Shinjiro Akaboshi

5

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15 September 2020

Masami Togawa

7

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15 September 2020

Shingo Oana

8

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15 September 2020

Koyo Ohno

9

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15 September 2020

Mariko Kasai

10

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15 September 2020

Chikako Ogawa

11

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15 September 2020

Kazuna Yamamoto

12

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15 September 2020

Kiyohito Okumiya

13

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15 September 2020

Pin Fee Chong

14

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15 September 2020

Ryutaro Kira

15

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15 September 2020

Shumpei Uchino

16

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15 September 2020

Tetsuhiro Fukuyama

17

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15 September 2020

Tomoe Shinagawa

18

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15 September 2020

Yohane Miyata

19

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15 September 2020

Yuichi Abe

20

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15 September 2020

Akira Hojo

21

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15 September 2020

Kozue Kobayashi

22

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15 September 2020

Yoshihiro Maegaki

23

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15 September 2020

Nobutsune Ishikawa

24

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15 September 2020

Hiroko Ikeda

25

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15 September 2020

Masano Amamoto

26

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15 September 2020

Takeshi Mizuguchi

27

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15 September 2020

Kazuhiro Iwama

28

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15 September 2020

Toshiyuki Itai

29

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15 September 2020

Satoko Miyatake

30

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15 September 2020

Hirotomo Saitsu

31

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15 September 2020

publication date

23 July 2020

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15 September 2020

number of pages

9

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inferred from page(s)

published in

Epilepsia Open

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15 September 2020

volume

5

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15 September 2020

page(s)

442-450

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15 September 2020

issue

3

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Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

15 September 2020

cites work

1 reference

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7 January 2021

Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress

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Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

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Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

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Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy

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De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Identifiers

DOI

10.1002/EPI4.12417

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32913952%20AND%20SRC:MED&resulttype=core&format=json

15 September 2020

1 reference