Etiology
Mohammadi NA,
Ahring PK,
Yu Liao VW,
Chua HC,
Ortiz de la Rosa S,
Johannesen KM,
Michaeli-Yossef Y,
Vincent-Devulder A,
Meridda C,
Bruel AL,
Rossi A,
Patel C,
Klepper J,
Bonanni P,
Minghetti S,
Trivisano M,
Specchio N,
Amor D,
Auvin S,
Baer S,
Meyer P,
Milh M,
Salpietro V,
Maroofian R,
Lemke JR,
Weckhuysen S,
Christophersen P,
Rubboli G,
Chebib M,
Jensen AA,
Absalom NL,
Møller RS
EBioMedicine
2024 Aug;106:105236.
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Sudhakar S,
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Massey F,
Turchetti V,
Lau T,
Cook E,
Alvi JR,
Elbendary HM,
Jewell JL,
Riva A,
Orsini A,
Vignoli A,
Federico Z,
Rosenblum J,
Schoonjans AS,
de Wachter M,
Delgado Alvarez I,
Felipe-Rucián A,
Haridy NA,
Haider S,
Zaman M,
Banu S,
Anwaar N,
Rahman F,
Maqbool S,
Yadav R,
Salpietro V,
Maroofian R,
Patel R,
Radhakrishnan R,
Prabhu SP,
Lichtenbelt K,
Stewart H,
Murakami Y,
Löbel U,
D'Arco F,
Wakeling E,
Jones W,
Hay E,
Bhate S,
Jacques TS,
Mirsky DM,
Whitehead MT,
Zaki MS,
Sultan T,
Striano P,
Jansen AC,
Lequin M,
de Vries LS,
Severino M,
Edmondson AC,
Menzies L,
Campeau PM,
Houlden H,
McTague A,
Efthymiou S,
Mankad K
Brain
2024 Aug 1;147(8):2775-2790.
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Whitney R,
Choi E,
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2023 Mar;106:8-13.
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Knupp KG,
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Ceulemans B,
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Nickels KC,
Lagae L,
Guerrini R,
Zuberi SM,
Nabbout R,
Riney K,
Agarwal A,
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Epilepsia
2023 Jan;64(1):139-151.
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PMID: 36196777Free PMC Article
Strehlow V,
Heyne HO,
Vlaskamp DRM,
Marwick KFM,
Rudolf G,
de Bellescize J,
Biskup S,
Brilstra EH,
Brouwer OF,
Callenbach PMC,
Hentschel J,
Hirsch E,
Kind PC,
Mignot C,
Platzer K,
Rump P,
Skehel PA,
Wyllie DJA,
Hardingham GE,
van Ravenswaaij-Arts CMA,
Lesca G,
Lemke JR;
GRIN2A study group
Brain
2019 Jan 1;142(1):80-92.
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Diagnosis
Mohammadi NA,
Ahring PK,
Yu Liao VW,
Chua HC,
Ortiz de la Rosa S,
Johannesen KM,
Michaeli-Yossef Y,
Vincent-Devulder A,
Meridda C,
Bruel AL,
Rossi A,
Patel C,
Klepper J,
Bonanni P,
Minghetti S,
Trivisano M,
Specchio N,
Amor D,
Auvin S,
Baer S,
Meyer P,
Milh M,
Salpietro V,
Maroofian R,
Lemke JR,
Weckhuysen S,
Christophersen P,
Rubboli G,
Chebib M,
Jensen AA,
Absalom NL,
Møller RS
EBioMedicine
2024 Aug;106:105236.
Epub 2024 Jul 11
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PMID: 38996765Free PMC Article
Whitney R,
Choi E,
Jones KC
Seizure
2023 Mar;106:8-13.
Epub 2023 Jan 23
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Adang LA,
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Pediatr Neurol
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Int J Mol Sci
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Haginoya K,
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Kuki I,
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Goto T,
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2023 Mar;106:58-67.
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Riney K,
Agarwal A,
Lock M,
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Farfel GM,
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Polega S,
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Epilepsia
2023 Jan;64(1):139-151.
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Mohammadi NA,
Ahring PK,
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Chua HC,
Ortiz de la Rosa S,
Johannesen KM,
Michaeli-Yossef Y,
Vincent-Devulder A,
Meridda C,
Bruel AL,
Rossi A,
Patel C,
Klepper J,
Bonanni P,
Minghetti S,
Trivisano M,
Specchio N,
Amor D,
Auvin S,
Baer S,
Meyer P,
Milh M,
Salpietro V,
Maroofian R,
Lemke JR,
Weckhuysen S,
Christophersen P,
Rubboli G,
Chebib M,
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2024 Aug;106:105236.
Epub 2024 Jul 11
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PMID: 38996765Free PMC Article
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Biswas A,
Massey F,
Turchetti V,
Lau T,
Cook E,
Alvi JR,
Elbendary HM,
Jewell JL,
Riva A,
Orsini A,
Vignoli A,
Federico Z,
Rosenblum J,
Schoonjans AS,
de Wachter M,
Delgado Alvarez I,
Felipe-Rucián A,
Haridy NA,
Haider S,
Zaman M,
Banu S,
Anwaar N,
Rahman F,
Maqbool S,
Yadav R,
Salpietro V,
Maroofian R,
Patel R,
Radhakrishnan R,
Prabhu SP,
Lichtenbelt K,
Stewart H,
Murakami Y,
Löbel U,
D'Arco F,
Wakeling E,
Jones W,
Hay E,
Bhate S,
Jacques TS,
Mirsky DM,
Whitehead MT,
Zaki MS,
Sultan T,
Striano P,
Jansen AC,
Lequin M,
de Vries LS,
Severino M,
Edmondson AC,
Menzies L,
Campeau PM,
Houlden H,
McTague A,
Efthymiou S,
Mankad K
Brain
2024 Aug 1;147(8):2775-2790.
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PMID: 38456468Free PMC Article
Usmani MA,
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Magini P,
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Callenbach PMC,
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Hirsch E,
Kind PC,
Mignot C,
Platzer K,
Rump P,
Skehel PA,
Wyllie DJA,
Hardingham GE,
van Ravenswaaij-Arts CMA,
Lesca G,
Lemke JR;
GRIN2A study group
Brain
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PMID: 30544257Free PMC Article
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Sullivan J,
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Lagae L,
Guerrini R,
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Nabbout R,
Riney K,
Agarwal A,
Lock M,
Dai D,
Farfel GM,
Galer BS,
Gammaitoni AR,
Polega S,
Davis R,
Gil-Nagel A
Epilepsia
2023 Jan;64(1):139-151.
Epub 2022 Nov 9
doi: 10.1111/epi.17431.
PMID: 36196777Free PMC Article
Usmani MA,
Ahmed ZM,
Magini P,
Pienkowski VM,
Rasmussen KJ,
Hernan R,
Rasheed F,
Hussain M,
Shahzad M,
Lanpher BC,
Niu Z,
Lim FY,
Pippucci T,
Ploski R,
Kraus V,
Matuszewska K,
Palombo F,
Kianmahd J;
UCLA Clinical Genomics Center,
Martinez-Agosto JA,
Lee H,
Colao E,
Motazacker MM,
Brigatti KW,
Puffenberger EG,
Riazuddin SA,
Gonzaga-Jauregui C,
Chung WK,
Wagner M,
Schultz MJ,
Seri M,
Kievit AJA,
Perrotti N,
Wassink-Ruiter JSK,
van Bokhoven H,
Riazuddin S,
Riazuddin S
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2021 Jul 1;108(7):1330-1341.
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Takata A,
Nakashima M,
Saitsu H,
Mizuguchi T,
Mitsuhashi S,
Takahashi Y,
Okamoto N,
Osaka H,
Nakamura K,
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Haginoya K,
Takeshita S,
Kuki I,
Okanishi T,
Goto T,
Sasaki M,
Sakai Y,
Miyake N,
Miyatake S,
Tsuchida N,
Iwama K,
Minase G,
Sekiguchi F,
Fujita A,
Imagawa E,
Koshimizu E,
Uchiyama Y,
Hamanaka K,
Ohba C,
Itai T,
Aoi H,
Saida K,
Sakaguchi T,
Den K,
Takahashi R,
Ikeda H,
Yamaguchi T,
Tsukamoto K,
Yoshitomi S,
Oboshi T,
Imai K,
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Kubota M,
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Baba S,
Iai M,
Kira R,
Hara M,
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Miyata R,
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Yokochi K,
Shimono M,
Amamoto M,
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PMID: 31175295Free PMC Article
Strehlow V,
Heyne HO,
Vlaskamp DRM,
Marwick KFM,
Rudolf G,
de Bellescize J,
Biskup S,
Brilstra EH,
Brouwer OF,
Callenbach PMC,
Hentschel J,
Hirsch E,
Kind PC,
Mignot C,
Platzer K,
Rump P,
Skehel PA,
Wyllie DJA,
Hardingham GE,
van Ravenswaaij-Arts CMA,
Lesca G,
Lemke JR;
GRIN2A study group
Brain
2019 Jan 1;142(1):80-92.
doi: 10.1093/brain/awy304.
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