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Noriyuki Akasaka
76  results:
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1

The HCN1 p.Ser399Pro variant causes epileptic encephalopath..:

Kobayashi, Yu ; Tohyama, Jun ; Akasaka, Noriyuki...
Human Genome Variation.  10 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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2

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuol..:

Aoto, Kazushi ; Kato, Mitsuhiro ; Akita, Tenpei...
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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3

Severe leukoencephalopathy with cortical involvement and pe..:

Kobayashi, Yu ; Tohyama, Jun ; Akiyama, Tomoyuki...
Brain and Development.  39 (2017)  3 - p. 266-270 , 2017
Link: https://doi.org/10.1016/..
 
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4

High prevalence of genetic alterations in early-onset epile..:

Kobayashi, Yu ; Tohyama, Jun ; Kato, Mitsuhiro...
Brain and Development.  38 (2016)  3 - p. 285-292 , 2016
Link: https://doi.org/10.1016/..
 
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5

Rub epilepsy in an infant with Turner syndrome:

Magara, Shin-ichi ; Kawashima, Hideshi ; Kobayashi, Yu...
Brain and Development.  37 (2015)  7 - p. 725-728 , 2015
Link: https://doi.org/10.1016/..
 
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6

Gómez–López-Hernández syndrome in a Japanese patient: A cas..:

Kobayashi, Yu ; Kawashima, Hideshi ; Magara, Shinichi..
Brain and Development.  37 (2015)  3 - p. 356-358 , 2015
Link: https://doi.org/10.1016/..
 
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7

Infantile epileptic encephalopathy with a hyperkinetic move..:

Ohashi, Tsukasa ; Akasaka, Noriyuki ; Kobayashi, Yu...
Epileptic Disorders.  16 (2014)  2 - p. 208-212 , 2014
Link: https://doi.org/10.1684/..
 
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8

Genetic variations of immunoregulatory genes associated wit..:

Takahashi, Yukitoshi ; Mogami, Yukiko ; Mine, June...
Epilepsy Research.  107 (2013)  3 - p. 238-243 , 2013
Link: https://doi.org/10.1016/..
 
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9

Refractory Infantile Spasms Associated With Mosaic Variegat..:

Akasaka, Noriyuki ; Tohyama, Jun ; Ogawa, Atsushi...
Pediatric Neurology.  49 (2013)  5 - p. 364-367 , 2013
Link: https://doi.org/10.1016/..
 
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10

Congenital variant of Rett syndrome due to an intragenic la..:

Kobayashi, Yu ; Ohashi, Tsukasa ; Akasaka, Noriyuki.
Brain and Development.  34 (2012)  7 - p. 601-604 , 2012
Link: https://doi.org/10.1016/..
 
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11

Acquired Opercular Epilepsy With Oromotor Dysfunction: Magn..:

Tohyama, Jun ; Akasaka, Noriyuki ; Ohashi, Tsukasa.
Journal of Child Neurology.  26 (2011)  7 - p. 885-890 , 2011
Link: https://doi.org/10.1177/..
 
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12

West syndrome associated with mosaic duplication of FOXG1 i..:

Tohyama, Jun ; Yamamoto, Toshiyuki ; Hosoki, Kana...
American Journal of Medical Genetics Part A.  155 (2011)  10 - p. 2584-2588 , 2011
Link: https://doi.org/10.1002/..
 
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13

Nationwide survey (incidence, clinical course, prognosis) o..:

Muto, Ayako ; Oguni, Hirokazu ; Takahashi, Yukitoshi...
Brain and Development.  32 (2010)  6 - p. 445-453 , 2010
Link: https://doi.org/10.1016/..
 
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14

Dandy–Walker malformation associated with heterozygous ZIC1..:

Tohyama, Jun ; Kato, Mitsuhiro ; Kawasaki, Sari...
American Journal of Medical Genetics Part A.  155 (2010)  1 - p. 130-133 , 2010
Link: https://doi.org/10.1002/..
 
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15

Early onset West syndrome with cerebral hypomyelination and..:

Tohyama, Jun ; Akasaka, Noriyuki ; Osaka, Hitoshi...
Brain and Development.  30 (2008)  5 - p. 349-355 , 2008
Link: https://doi.org/10.1016/..
 
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