Etiology
Sandal S,
Verma IC,
Mahay SB,
Dubey S,
Sabharwal RK,
Kulshrestha S,
Saxena R,
Suman P,
Kumar P,
Puri RD
Indian J Pediatr
2024 Jul;91(7):682-695.
Epub 2023 Oct 7
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PMID: 37804371
Nakamura A,
Matsumura T,
Ogata K,
Mori-Yoshimura M,
Takeshita E,
Kimura K,
Kawashima T,
Tomo Y,
Arahata H,
Miyazaki D,
Takeshima Y,
Takahashi T,
Ishigaki K,
Kuru S,
Wakisaka A,
Awano H,
Funato M,
Sato T,
Saito Y,
Takada H,
Sugie K,
Kobayashi M,
Ozasa S,
Fujii T,
Maegaki Y,
Oi H,
Tachimori H,
Komaki H
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Clin Genet
2020 Mar;97(3):418-425.
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Acharya SV,
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Indian J Pediatr
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PMID: 19907937
Hennekam RC,
Stevens CA,
Van de Kamp JJ
Am J Med Genet Suppl
1990;6:56-64.
doi: 10.1002/ajmg.1320370610.
PMID: 2118780
Diagnosis
Nagarajan B,
Gowda VK,
Yoganathan S,
Sharawat IK,
Srivastava K,
Vora N,
Badheka R,
Danda S,
Kalane U,
Kaur A,
Madaan P,
Mehta S,
Negi S,
Panda PK,
Rajadhyaksha S,
Saini AG,
Saini L,
Shah S,
Srinivasan VM,
Suthar R,
Thomas M,
Vyas S,
Sankhyan N,
Sahu JK
Epilepsia Open
2023 Dec;8(4):1383-1404.
Epub 2023 Aug 25
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Shamim MM,
Vickers A,
Lee AG,
Costello F
Surv Ophthalmol
2019 Nov-Dec;64(6):876-883.
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Reuter MS,
Tawamie H,
Buchert R,
Hosny Gebril O,
Froukh T,
Thiel C,
Uebe S,
Ekici AB,
Krumbiegel M,
Zweier C,
Hoyer J,
Eberlein K,
Bauer J,
Scheller U,
Strom TM,
Hoffjan S,
Abdelraouf ER,
Meguid NA,
Abboud A,
Al Khateeb MA,
Fakher M,
Hamdan S,
Ismael A,
Muhammad S,
Abdallah E,
Sticht H,
Wieczorek D,
Reis A,
Abou Jamra R
JAMA Psychiatry
2017 Mar 1;74(3):293-299.
doi: 10.1001/jamapsychiatry.2016.3798.
PMID: 28097321
Acharya SV,
Gopal RA,
Bandgar TR,
Joshi SR,
Menon PS,
Shah NS
Indian J Pediatr
2009 Oct;76(10):1045-7.
Epub 2009 Nov 12
doi: 10.1007/s12098-009-0220-0.
PMID: 19907937
Moser HW,
Moser AB,
Naidu S,
Bergin A
Dev Neurosci
1991;13(4-5):254-61.
doi: 10.1159/000112170.
PMID: 1817030
Therapy
Curie A,
Lion-François L,
Valayannopoulos V,
Perreton N,
Gavanon M,
Touil N,
Brun-Laurisse A,
Gheurbi F,
Buchy M,
Halep H,
Cheillan D,
Mercier C,
Brassier A,
Desnous B,
Kassai B,
De Lonlay P,
Des Portes V
Neurology
2024 Apr 23;102(8):e209243.
Epub 2024 Mar 26
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PMID: 38531017
Ziats CA,
Schwartz CE,
Gecz J,
Shaw M,
Field MJ,
Stevenson RE,
Neri G
Clin Genet
2020 Mar;97(3):418-425.
Epub 2019 Nov 24
doi: 10.1111/cge.13667.
PMID: 31705537
Berry-Kravis E,
Des Portes V,
Hagerman R,
Jacquemont S,
Charles P,
Visootsak J,
Brinkman M,
Rerat K,
Koumaras B,
Zhu L,
Barth GM,
Jaecklin T,
Apostol G,
von Raison F
Sci Transl Med
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PMID: 26764156
Acharya SV,
Gopal RA,
Bandgar TR,
Joshi SR,
Menon PS,
Shah NS
Indian J Pediatr
2009 Oct;76(10):1045-7.
Epub 2009 Nov 12
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PMID: 19907937
Uziel G,
Bertini E,
Bardelli P,
Rimoldi M,
Gambetti M
Dev Neurosci
1991;13(4-5):274-9.
doi: 10.1159/000112173.
PMID: 1817033
Prognosis
Nakamura A,
Matsumura T,
Ogata K,
Mori-Yoshimura M,
Takeshita E,
Kimura K,
Kawashima T,
Tomo Y,
Arahata H,
Miyazaki D,
Takeshima Y,
Takahashi T,
Ishigaki K,
Kuru S,
Wakisaka A,
Awano H,
Funato M,
Sato T,
Saito Y,
Takada H,
Sugie K,
Kobayashi M,
Ozasa S,
Fujii T,
Maegaki Y,
Oi H,
Tachimori H,
Komaki H
Ann Clin Transl Neurol
2023 Dec;10(12):2360-2372.
Epub 2023 Oct 26
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PMID: 37882106Free PMC Article
Arvio M,
Lähdetie J
Am J Med Genet A
2021 Jul;185(7):2164-2167.
Epub 2021 May 4
doi: 10.1002/ajmg.a.62213.
PMID: 33942960
Acharya SV,
Gopal RA,
Bandgar TR,
Joshi SR,
Menon PS,
Shah NS
Indian J Pediatr
2009 Oct;76(10):1045-7.
Epub 2009 Nov 12
doi: 10.1007/s12098-009-0220-0.
PMID: 19907937
Moser HW,
Moser AB,
Naidu S,
Bergin A
Dev Neurosci
1991;13(4-5):254-61.
doi: 10.1159/000112170.
PMID: 1817030
Hennekam RC,
Stevens CA,
Van de Kamp JJ
Am J Med Genet Suppl
1990;6:56-64.
doi: 10.1002/ajmg.1320370610.
PMID: 2118780
Clinical prediction guides
Roychaudhury A,
Lee YR,
Choi TI,
Thomas MG,
Khan TN,
Yousaf H,
Skinner C,
Maconachie G,
Crosier M,
Horak H,
Constantinescu CS,
Kim TY,
Lee KH,
Kyung JJ,
Wang T,
Ku B,
Chodirker BN,
Hammer MF,
Gottlob I,
Norton WHJ,
Gerlai R,
Kim HG,
Graziano C,
Pippucci T,
Iovino E,
Montanari F,
Severi G,
Toro C,
Boerkoel CF,
Cha HS,
Choi CY,
Kim S,
Yoon JH,
Gilmore K,
Vora NL,
Davis EE,
Chudley AE,
Schwartz CE,
Kim CH
Ann Neurol
2024 Nov;96(5):914-931.
Epub 2024 Jul 29
doi: 10.1002/ana.27037.
PMID: 39073169Free PMC Article
Sandal S,
Verma IC,
Mahay SB,
Dubey S,
Sabharwal RK,
Kulshrestha S,
Saxena R,
Suman P,
Kumar P,
Puri RD
Indian J Pediatr
2024 Jul;91(7):682-695.
Epub 2023 Oct 7
doi: 10.1007/s12098-023-04820-5.
PMID: 37804371
Nakamura A,
Matsumura T,
Ogata K,
Mori-Yoshimura M,
Takeshita E,
Kimura K,
Kawashima T,
Tomo Y,
Arahata H,
Miyazaki D,
Takeshima Y,
Takahashi T,
Ishigaki K,
Kuru S,
Wakisaka A,
Awano H,
Funato M,
Sato T,
Saito Y,
Takada H,
Sugie K,
Kobayashi M,
Ozasa S,
Fujii T,
Maegaki Y,
Oi H,
Tachimori H,
Komaki H
Ann Clin Transl Neurol
2023 Dec;10(12):2360-2372.
Epub 2023 Oct 26
doi: 10.1002/acn3.51925.
PMID: 37882106Free PMC Article
Nagarajan B,
Gowda VK,
Yoganathan S,
Sharawat IK,
Srivastava K,
Vora N,
Badheka R,
Danda S,
Kalane U,
Kaur A,
Madaan P,
Mehta S,
Negi S,
Panda PK,
Rajadhyaksha S,
Saini AG,
Saini L,
Shah S,
Srinivasan VM,
Suthar R,
Thomas M,
Vyas S,
Sankhyan N,
Sahu JK
Epilepsia Open
2023 Dec;8(4):1383-1404.
Epub 2023 Aug 25
doi: 10.1002/epi4.12811.
PMID: 37583270Free PMC Article
Schirinzi T,
Vasco G,
Aiello C,
Rizzo C,
Sancesario A,
Romano A,
Favetta M,
Petrarca M,
Paone L,
Castelli E,
Bertini ES,
Cappa M
Eur J Neurol
2019 Feb;26(2):326-332.
Epub 2018 Nov 9
doi: 10.1111/ene.13816.
PMID: 30295399