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Search life-sciences literature (45,104,931 articles, preprints and more)

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Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y, European STXBP1 consortium (ESCO), STXBP1 foundation, Rubboli G, Møller RS, Gardella E
Neurol Sci, 11 Oct 2024
Cited by: 0 articles | PMID: 39392525
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Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.
Rawlins LE, Maroofian R, Cannon SJ, Daana M, Zamani M, Ghani S, Leslie JS, Ubeyratna N, Khan N, Khan H, Scardamaglia A, Cloarec R, Khan SA, Umair M, Sadeghian S, Galehdari H, Al-Maawali A, Al-Kindi A, Azizimalamiri R, [...] Crosby AH
Genet Med, 101278, 20 Sep 2024
Cited by: 0 articles | PMID: 39315527
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, [...] Maroofian R
Genet Med, 101251, 10 Sep 2024
Cited by: 0 articles | PMID: 39275948
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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.
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, [...] Møller RS
EBioMedicine, 106:105236, 11 Jul 2024
Cited by: 1 article | PMID: 38996765 | PMCID: PMC11296288
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Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy.
Gauer L, Lagarde S, Valenti-Hirsch MP, Makhalova J, Milh M, Baer S, Lepine A, Ollivier I, Scavarda D, Hirsch E, Bartolomei F, De Saint-Martin A, Villeneuve N
Rev Neurol (Paris), 180(8):807-817, 11 Jun 2024
Cited by: 0 articles | PMID: 38866657
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Normative models combining fetal and postnatal MRI data to characterize neurodevelopmental trajectories during the transition from in- to ex-utero
Mihailov A, Pron A, Lefèvre J, Deruelle C, Desnous B, Bretelle F, Manchon A, Milh M, Rousseau F, Auzias G, Girard N
bioRxiv, 11 Mar 2024
Cited by: 0 articles | PPR: PPR817495
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Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V, Pisano T, Pisano T, Lesca G, Marafi D, Licchetta L, Riccardi F, Mei D, Chung HB, Bayat A, Balasubramanian M, Lowenstein DH, Endzinienė M, Alotaibi M, Villeneuve N, Jacobs J, Isidor B, Solazzi R, den Hollander NS, [...] YWHAG Study Group
Epilepsia, 65(5):1439-1450, 16 Mar 2024
Cited by: 0 articles | PMID: 38491959
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Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Khosrowabadi E, Mignon-Ravix C, Riccardi F, Cacciagli P, Desnous B, Sigaudy S, Milh M, Villard L, Kjellén L, Molinari F
Hum Mol Genet, 33(6):520-529, 01 Feb 2024
Cited by: 0 articles | PMID: 38129107
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, [...] Héron D
J Med Genet, 61(2):103-108, 19 Jan 2024
Cited by: 1 article | PMID: 37879892
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Phosphatidylserine enriched with polyunsaturated n-3 fatty acid supplementation for attention-deficit hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo-controlled trial.
Rheims S, Herbillon V, Gaillard S, Mercier C, Villeuve N, Villéga F, Cances C, Castelnau P, Napuri S, de Saint-Martin A, Auvin S, Nguyen The Tich S, Berquin P, de Bellecize J, Milh M, Roy P, Arzimanoglou A, Bodennec J, Bezin L, [...] investigators of the AGPI study group
Epilepsia Open, 9(2):582-591, 25 Jan 2024
Cited by: 1 article | PMID: 38173190 | PMCID: PMC10984292
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Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
Desnous B, Carles G, Riccardi F, Stremler N, Baravalle M, El-Louali F, Testud B, Milh M
Prenat Diagn, 44(3):364-368, 26 Dec 2023
Cited by: 0 articles | PMID: 38148030
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Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.
Dozieres-Puyravel B, Nasser H, Mauvais FX, De Saint Martin A, Perriard C, Di Meglio C, Cances C, Hachon-LE Camus C, Milh M, Auvin S
Eur J Paediatr Neurol, 48:61-66, 27 Nov 2023
Cited by: 1 article | PMID: 38041897
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Familial KCNQ2 mutation: a psychiatric perspective.
Iftimovici A, Charmet A, Desnous B, Ory A, Delorme R, Coutton C, Devillard F, Milh M, Maruani A
Psychiatr Genet, 34(1):24-27, 13 Dec 2023
Cited by: 0 articles | PMID: 38108335 | PMCID: PMC10766091
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Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome.
Desnous B, Beretti T, Muller N, Neveu J, Villeneuve N, Lépine A, Daquin G, Milh M
Epilepsia Open, 9(1):397-403, 15 Nov 2023
Cited by: 3 articles | PMID: 37485779 | PMCID: PMC10839357
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Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study.
Aim MA, Rousseau MC, Hamouda I, Anzola AB, de Villemeur TB, Milh M, Maincent K, Lind K, Auquier P, Baumstarck K, Dany L
Health Expect, 27(1):e13910, 06 Nov 2023
Cited by: 1 article | PMID: 37932892 | PMCID: PMC10757136
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Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood.
Papadopoulou MT, Welniarz Q, Roubertie A, Gras D, Milh M, Panagiotakaki E, Roze E
Mov Disord, 38(9):1759-1761, 19 Jul 2023
Cited by: 1 article | PMID: 37466145
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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, [...] Sinclair AH
Nat Commun, 14(1):3403, 09 Jun 2023
Cited by: 0 articles | PMID: 37296101 | PMCID: PMC10256788
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GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe Epilepsy.
Boileau C, Deforges S, Peret A, Scavarda D, Bartolomei F, Giles A, Partouche N, Gautron J, Viotti J, Janowitz H, Penchet G, Marchal C, Lagarde S, Trebuchon A, Villeneuve N, Rumi J, Marissal T, Khazipov R, Khalilov I, [...] Crépel V
Ann Neurol, 94(4):745-761, 06 Jul 2023
Cited by: 3 articles | PMID: 37341588
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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, [...] Sinclair AH
Nat Commun, 14(1):3566, 15 Jun 2023
Cited by: 0 articles | PMID: 37322043 | PMCID: PMC10272200
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Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T, Heide S, Guilbaud L, Valence S, Perre SV, Blondiaux E, Keren B, Quenum-Miraillet G, Jouannic JM, Mandelbrot L, Picone O, Guet A, Tsatsaris V, Milh M, Girard N, Vincent M, Nizon M, Poirsier C, Vivanti A, [...] Garel C
Prenat Diagn, 43(6):746-755, 23 May 2023
Cited by: 1 article | PMID: 37173814
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GluK2 is a target for gene therapy in drug-resistant Temporal Lobe Epilepsy
Boileau C, Deforges S, Peret A, Scavarda D, Bartolomei F, Giles A, Partouche N, Gautron J, Viotti J, Janowitz H, Penchet G, Marchal C, Lagarde S, Trebuchon A, Villeneuve N, Rumi J, Marissal T, Khazipov R, Khalilov I, [...] Crépel V
bioRxiv, 13 Apr 2023
Cited by: 0 articles | PPR: PPR645667
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Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD).
Lenoir M, Beretti T, Testud B, Resseguier N, Gauthier K, Fouilloux V, Gran C, Paoli F, El-Louali F, Aldebert P, Blanc J, Soulatges C, Al-Dybiat S, Carles G, Wanert C, Rozalen W, Lebel S, Arnaud S, Santelli D, [...] Desnous B
Front Pediatr, 11:1003585, 23 Mar 2023
Cited by: 0 articles | PMID: 37033180 | PMCID: PMC10077148
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Before the first seizure: The developmental imprint of infant epilepsy on neurodevelopment.
Milh M
Rev Neurol (Paris), 179(4):330-336, 10 Mar 2023
Cited by: 0 articles | PMID: 36907712
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Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Carapancea E, Cornet MC, Milh M, De Cosmo L, Huang EJ, Granata T, Striano P, Ceulemans B, Stein A, Morris-Rosendahl D, Conti G, Mitra N, Raymond FL, Rowitch DH, Solazzi R, Vercellino F, De Liso P, D'Onofrio G, Boniver C, [...] Cilio MR
Neurology, 100(12):e1234-e1247, 04 Jan 2023
Cited by: 0 articles | PMID: 36599696 | PMCID: PMC10033164
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Overview of therapeutic options for epilepsy.
Kuchenbuch M, Chiron C, Milh M
Arch Pediatr, 29(5s):5S14-5S19, 01 Dec 2022
Cited by: 1 article | PMID: 36585066
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1-25 of 171 results

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Search life-sciences literature (45,104,931 articles, preprints and more)

Search results

Early mortality in STXBP1-related disorders.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Pathways to epilepsy surgery in children with tuberous sclerosis complex-associated epilepsy.

Normative models combining fetal and postnatal MRI data to characterize neurodevelopmental trajectories during the transition from in- to ex-utero

Clinical and molecular characterization of patients with YWHAG-related epilepsy.

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Phosphatidylserine enriched with polyunsaturated n-3 fatty acid supplementation for attention-deficit hyperactivity disorder in children and adolescents with epilepsy: A randomized placebo-controlled trial.

Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.

Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome.

Familial KCNQ2 mutation: a psychiatric perspective.

Efficacy and tolerance of cannabidiol in the treatment of epilepsy in patients with Rett syndrome.

Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study.

Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

GluK2 Is a Target for Gene Therapy in Drug-Resistant Temporal Lobe Epilepsy.

Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.

GluK2 is a target for gene therapy in drug-resistant Temporal Lobe Epilepsy

Impact of cardiac surgical timing on the neurodevelopmental outcomes of newborns with Complex congenital heart disease (CHD).

Before the first seizure: The developmental imprint of infant epilepsy on neurodevelopment.

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Overview of therapeutic options for epilepsy.

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