De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith +33 more·2012·Nature Genetics
DOI 10.1038/ng.2331

Cited by (742)

Items 501–600 of 742

  1. Congenital Malformations of the Central Nervous System
    Sarah Bauer Huang, Dan Doherty · 2018 · Avery's Diseases of the Newborn
  2. The Genetics of Brain Malformations
    M. Chiara Manzini, Christopher A. Walsh · 2015 · Wiley eBooks
  3. Molecular characterization of 13 patients with PIK3CA ‐related overgrowth spectrum using a targeted deep sequencing approach
    Leanne de Kock, Alexanne Cuillerier, Meredith K. Gillespie, Madeline Couse, Taila Hartley, Wendy Mears, François P. Bernier, Albert E. Chudley, Patrick Frosk, Sarah M. Nikkel et al. · 2023 · American Journal of Medical Genetics Part A
  4. Extracranial Vascular Malformations Increase Cardiovascular Disease Risk: A Nationwide Population-Based Cohort Study
    Jeong Yeop Ryu, Yong June Chang, Joon Seok Lee, Kang Young Choi, Jung Dug Yang, Seok‐Jong Lee, Jongmin Lee, Seung Huh, Ji Yoon Kim, Ho Yun Chung · 2024 · Plastic & Reconstructive Surgery
  5. Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy
    Philip H. Iffland, P. Crino · 2016 · Epilepsy Currents
  6. Congenital Hydrocephalus
    Charuta Gavankar Furey, Prince Antwi, Kristopher Thomas Kahle · 2018 · Springer eBooks
  7. Neuronal Proliferation
    Annapurna Poduri, Joseph J. Volpe · 2017 · Elsevier eBooks
  8. Mosaic pathogenic variants in AKT3 cause capillary malformation and undergrowth
    Amber Bolli, Bede Nnaemeka Nriagu, Allison Britt, Anjali D. Toole, James R. Treat, Abhay S. Srinivasan, Sarah E. Sheppard · 2023 · American Journal of Medical Genetics Part A
  9. Megalencephaly secondary to a novel germline missense variant p.Asp322Tyr in AKT3 associated with growth hormone deficiency and central hypothyroidism: A case report
    Émeline Renard, Céline Bonnet, Marie Di Patrizio, Emmanuelle Schmitt, A. C. Madkaud, Caroline Chabot, Mathieu Kuchenbuch, Laëtitia Lambert · 2024 · American Journal of Medical Genetics Part A
  10. Alterations of the AKT Pathway in Sporadic Human Tumors, Inherited Susceptibility to Cancer, and Overgrowth Syndromes
    Craig W. Menges, Dalal Hassan, Mitchell Cheung, Alfonso Bellacosa, Joseph R. Testa · 2024 · Current topics in microbiology and immunology
  11. Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE
    A. Maruani, M. Durieux-Verde, J. Mazereeuw‐Hautier, O. Boccara, Ludovic Martin, C. Chiavérini, Catherine Eschard, N. Bénéton, Pierre Vabres, Xavier Balguérie et al. · 2017 · Acta Dermato Venereologica
  12. Phenotypic and molecular characterization of five patients with PIK3CA ‐related overgrowth spectrum ( PROS )
    Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Timur Tunçalı, Víctor Martínez‐Glez, Halil Gürhan Karabulut, Seçil Vural, Serdar Ceylaner, Mustafa Oğuz Acar et al. · 2022 · American Journal of Medical Genetics Part A
  13. Brain somatic mutations as RNA therapeutic targets in neurological disorders
    Sung‐Yul Lee, Jeong Ho Lee · 2022 · Annals of the New York Academy of Sciences
  14. Neuronal Migration
    Annapurna Poduri, Joseph J. Volpe · 2017 · Elsevier eBooks
  15. Postzygotic mutations and where to find them – Recent advances and future implications in the field of non-neoplastic somatic mosaicism
    Krystyna Wasilewska, Tomasz Gambin, Małgorzata Rydzanicz, Krzysztof Szczałuba, Rafał Płoski · 2022 · Mutation Research/Reviews in Mutation Research
  16. PIK 3 CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
    Virginia Valentini, Veronica Zelli, Piera Rizzolo, Valentina Silvestri, Maurizio Alimandi, Maria Michela D’Aloia, Sandra Giustini, Stefano Calvieri, Antonio Giovanni Richetta, Giovanni Monteleone et al. · 2018 · Clinical Case Reports
  17. Prenatal diagnosis of MPPH syndrome
    Bart De Keersmaecker, Hilde Van Esch, Dominique Van Schoubroeck, Filip G. Claus, Philippe Moerman, Luc De Catte · 2013 · Prenatal Diagnosis
  18. Clinical and haemodynamic risk factors associated with discrepancies in lower limb length with capillary malformations: data from the national paediatric French cohort CONAPE
    Mahtab Samimi, M. Durieux-Verde, Agnès Caille, J. Mazereeuw‐Hautier, O. Boccara, Ludovic Martin, C. Chiavérini, Catherine Eschard, N. Bénéton, Pierre Vabres et al. · 2017 · British Journal of Dermatology
  19. Cerebral malformations
    Renzo Guerrini, Elena Parrini · 2020 · Elsevier eBooks
  20. High depth targeted next-generation sequencing in vascular malformations
    Pattima Pakhathirathien, Parith Wongkittichote, Sanchawan Wittayakornrerk, Tharintorn Treesit, Sasikorn Feinggumloon, Kaewpitcha Pichipichatkul, Chinnarat Bua-ngam, Ajchariya Sarovath, Pornsri Thanachatchairattana, Sarayuth Dumrongwongsiri et al. · 2025 · Human Molecular Genetics
  21. Neuropathology of focal epilepsy: the promise of artificial intelligence and digital Neuropathology 3.0
    Ingmar Blümcke, Jörg Vorndran · 2024 · Pathology
  22. Neural cell competition sculpting brain from cradle to grave
    Y. Li, Lisen Gao, Xuelian Sun, Lihui Duan, Man Jiang, Qingfeng Wu · 2025 · National Science Review
  23. Paired blood and brain tissue methylation biomarkers in focal cortical dysplasia
    Ishant Khurana, Jean Khoury, Robyn M. Busch, Ingmar Blümcke, Imad Najm, Assam El‐Osta · 2025 · Brain Communications
  24. Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease
    Gannon A. McDonough, Yuchen Cheng, Katherine S. Morillo, Ryan N. Doan, Zinan Zhou, Connor J. Kenny, Aaron Foutz, Chae Kim, Mark L. Cohen, Brian Stephen Appleby et al. · 2024 · Acta Neuropathologica
  25. An overview of the value of mTOR inhibitors to the treatment of epilepsy: the evidence to date
    Patrick B. Moloney, Norman Delanty · 2025 · Expert Review of Neurotherapeutics
  26. Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus
    Muhamed Hadzipasic, Madeline B. Karsten, Heather E. Olson, Lance H. Rodan, Hart G.W. Lidov, Sanjay P. Prabhu, Karen D. Wright, Katie L. Pricola · 2021 · American Journal of Medical Genetics Part A
  27. Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians
    Hongrui Chen, Bin Sun, Hongyuan Liu, Wei Gao, Yajing Qiu, Chen Hua, Xiaoxi Lin · 2024 · Molecular Genetics and Genomics
  28. Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease
    Christy Collins · 2016 · Applied & Translational Genomics
  29. Megalencephaly-capillary malformation polymicrogyria: A review and complex pediatric case report
    Ashlee R. Loughan, Murphy Harrell, Robert B. Perna, Aislyn Allen, Brian Suddarth · 2016 · Applied Neuropsychology Child
  30. Congenital Malformations of the Central Nervous System
    Benjamin J. Dean, Dan Doherty · 2023 · Avery's Diseases of the Newborn
  31. Disorders Affecting Cutaneous Vasculature
    A. Dompmartin, Nicole Revençu, Laurence Myriam Boon, Miikka Vikkula · 2016
  32. PI3K/AKT/mTOR Signalling Inhibitor Chrysophanol Ameliorates Neurobehavioural and Neurochemical Defects in Propionic Acid-induced Experimental Model of Autism in Adult Rats
    Aarti Sharma, Sonalika Bhalla, Sidharth Mehan · 2021 · Research Square
  33. Targeted management of vascular anomalies
    Jingwen Lu, Marra Jai Aghajani, Deshan Frank Sebaratnam · 2025 · Journal of the European Academy of Dermatology and Venereology
  34. Modeling genetic mosaicism of the mammalian target of rapamycin pathway in the cerebral cortex
    David M. Feliciano · 2023 · Frontiers in Mammal Science
  35. Non‐Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations
    Themis-Areti A. Andreoti, Massimo Maiolo, Aleksandra Tuleja, Yvonne Döring, André Schaller, Erik Vassella, Laurence Myriam Boon, Iris Baumgärtner, Sarah Bernhard, Christiane Zweier et al. · 2024 · American Journal of Medical Genetics Part A
  36. Überwuchssyndrome durch Mutationsmosaike im PI3K-AKT-Signalweg
    Isabel Spier, Stefan Aretz · 2017 · Medizinische Genetik
  37. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 1q42.3-q44 deletion in a fetus associated with ventriculomegaly on prenatal ultrasound
    Chih‐Ping Chen, Tsang‐Ming Ko, Liang‐Kai Wang, Schu‐Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun‐Yi Chen, Wen-Lin Chen, Wayseen Wang · 2020 · Taiwanese Journal of Obstetrics and Gynecology
  38. Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments
    Kimberly Raymond, Susan Vallow, Cory D. Saucier, Kristi Jackson, Michelle K. White, Andrew Lovley, Denise D’Alessio · 2022 · Journal of Patient-Reported Outcomes
  39. Differential H3K9me2 heterochromatin levels and concordant mRNA expression in postmortem brain tissue of individuals with schizophrenia, bipolar, and controls
    Hooriyah S. Rizavi, Kayla A. Chase, Chunyu Liu, Hannah E. Gavin, Cherise Rosen, Cuihua Xia, Alessandro Guidotti, Rajiv P. Sharma · 2022 · Frontiers in Psychiatry
  40. Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome
    Yuri Yoh, Tadashi Shiohama, Tomoko Uchida, Ryota Ebata, Hironobu Kobayashi, Kentaro Okunushi, Mitsuhiro Kato, Kazuki Watanabe, Mitsuko Nakashima, Hirotomo Saitsu et al. · 2023 · Frontiers in Genetics
  41. Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment
    Kerry Grens, Kit M. Church, Eric Chater‐Diehl, Senyene Eyo Hunter, Katrina Tatton‐Brown, Jill Kiernan, Christal G. Delagrammatikas · 2024 · Therapeutic Advances in Rare Disease
  42. Can the male germline offer insight into mammalian brain size expansion?
    Stephen J. Bush, Anne Goriely · 2024 · Andrology
  43. Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
    Andrea Gazzin, Giuseppe Reynolds, Stefania Massuras, Maria Luca, Paola Coppo, Diana Carli, Marilidia Piglionica, Stefania Martino, Rosanna Bagnulo, Giovanni Battista Ferrero et al. · 2025 · Journal of Medical Genetics
  44. Brain transcriptomic signatures for mood disorders and suicide phenotypes: an anterior insula and subgenual ACC network postmortem study
    Dhivya Arasappan, Abigail Spears, Simran Shah, Roy Dayne Mayfield, Nirmala Akula, Francis J. McMahon, Mbemba Jabbi · 2025 · Brain Behavior & Immunity - Health
  45. Focal Structural Epilepsy
    Ghayda Mirzaa, Christopher J. Yuskaitis, Annapurna Poduri · 2017 · Elsevier eBooks
  46. Brain Imaging and Genetic Risk in the Pediatric Population, Part 2
    Maria Gabriela Figueiró Longo, T Félix, Patrícia Ashton‐Prolla, Leonardo Vedolin · 2014 · Neuroimaging Clinics of North America
  47. Nitrate Reductase: A Nexus of Disciplines, Organisms, and Metabolism
    Erica B. Young, John A. Berges · 2016 · Springer eBooks
  48. Vascular Anomalies of the Head and Neck
    Jonathan A. Perkins · 2015 · Elsevier eBooks
  49. Fertility in McCune Albright syndrome female: A case study focusing on AMH as a marker of ovarian dysfunction and a literature review
    Mikaël Agopiantz, Arthur Sorlin, Pierre Vabres, Bruno Leheup, Virginie Carmignac, Catherine Malaplate, Catherine Diligent, Céline Bonnet, Guillaume Gauchotte · 2021 · Journal of Gynecology Obstetrics and Human Reproduction
  50. One of the First Cases with PIK3CA-related Overgrowth Spectrum (PROS) in Saudi Arabia: A Case Report and Literature Review
    Saleem Abdullah Alsaedi, Oday Qurashi, Mohammed Bajunaid, Abdullah A Altalhi, Aiman M Shawli · 2020 · Cureus
  51. Making sense of genetic heterogeneity
    Alex R. Paciorkowski, Basil T. Darras · 2013 · Neurology
  52. Proteus Syndrome and Other Localized Overgrowth Disorders
    Veronica A. Kinsler · 2019 · Harper's Textbook of Pediatric Dermatology
  53. Thick Corpus Callosum: An Unusual Finding of TUBGCP2 ‐Related Tubulinopathy
    Tuna Eren Esen, Didem Ardıçlı, Avni Merter Keçeli, Büşranur Çavdarlı · 2025 · American Journal of Medical Genetics Part A
  54. Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances
    Jinhua Hu, X. George Xu, Ping Jiang, Ruibin Huang, Jiani Yuan, l Zhi-Bing Lu, Jin Han · 2026 · Biomedicines
  55. Complex Genetics in Somatic Mosaic Disorders: Evaluating the Rate of Multiple “Hits” in Nonmalignant Lesions
    Brian Nguyen, Madelyn A. Gillentine, Candace T. Myers, Sofia Bhatia, Jaya Narayanan, Larissa Rogge, Louisa Emery, Jonathan Perkins, Whitney Eng, Anica M. Wandler et al. · 2026 · Modern Pathology
  56. Focal cortical dysplasia
    Alissa M. D’Gama, Christopher A. Walsh · 2020 · Elsevier eBooks
  57. Abnormal Body Size and Proportion
    Deepika D’Cunha Burkardt, John M. Graham · 2018 · Elsevier eBooks
  58. Polymicrogyria with Dysmorphic Neurons in a Patient with SCN2A Mutation
    A. Gélot, Thomas Courtin, Chiara Siléo, Boris Keren, Yohan Sorèze, Sandra Whalen, Alfonso Represa · 2022 · Journal of Neuropathology & Experimental Neurology
  59. PIK3CA Mutational Analysis in Patients With Macrodactyly
    Jakob Becker, Ulrike Camenisch Gross, Daniel Max Weber, Lisa Weibel, Martin Theiler, Simone Brandt, Peter K. Bode · 2022 · Pediatric and Developmental Pathology
  60. Atypical Presentation and Evolution of Necrotizing Enterocolitis as a PIK3CA Pathological Variant
    Nancy Laval, Niina Kleiber, Jean‐François Soucy, Josée Dubois, Michael‐Andrew Assaad · 2024 · Cureus
  61. Genetic Association of APOA5 and AKT3 Genes with Milk Production Traits in Chinese Holstein Cows
    Zijiao Guo, Aixia Du, Bo Han, Hui Li, Rugang Tian, Wei Sun, Gaoping Zhao, Jing Tian, Xiangnan Bao, Jixin Zhang et al. · 2024 · Agriculture
  62. A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures
    Alison M. Muir, Adi Reich, Fanggeng Zou, Deanna Alexis Carere, Sue Moyer Harasink, Lily H. Tran, Bobbi McGivern · 2024 · Human Genetics and Genomics Advances
  63. Cytomegalic parvalbumin neurons in fetal cases of hemimegalencephaly
    A. Gélot, Tangra Draia-Nicolau, Rémi Mathieu, Lucas Silvagnoli, Françoise Watrin A, Carlos Cardoso, Jean‐Bernard Manent, Antoine de Chevigny, Alfonso Represa · 2025 · Epilepsia
  64. The VASCERN-VASCA Working Group Diagnostic and Management Pathways for Capillary Malformations
    Eulàlia Baselga, Rune Andersen, Maria Barea, Miguel Bejarano Serrano, Sigurd Berger, Annouk Bisdorff, O. Boccara, Maria Bom‐Sucesso, Laurence M. Boon, Petra Borgards et al. · 2025 · Journal of Vascular Anomalies
  65. Mosaicism in Traditional Mendelian Diseases
    Teck Wah Ting, Raveen Shahdadpuri, Saumya Shekhar Jamuar · 2015 · Current Genetic Medicine Reports
  66. A spectrum of overgrowth syndromes associated with the PIK3CA mutation. Literature review
    G. B. Sagoyan, Irina S. Kletskaya, Евгений Наумович Имянитов, Yu. M. Mareeva, Nikolay V. Zhukov, Руслан Асланчериевич Хагуров, Amina M. Suleymanova · 2022 · Russian Journal of Pediatric Hematology and Oncology
  67. Molecular genetic decoding of malformations of cortical development
    Jae Seok Lim, Jeong Ho Lee · 2015 · Journal of genetic medicine
  68. Next Generation Sequencing in Dysmorphology
    Robert Stanisław Śmigiel, Urszula Anna Demkow · 2015 · Elsevier eBooks
  69. PEDIATRIC GRAND ROUNDS
    D. Woods, Aaron Jenkins Perry, Solomis Solomou, Ashlee R. Loughan, Robert B. Perna, J. Hertza, S. Northington, Kelly Tyson, Anna Miley-Åkerstedt, Lara Vanessa Marcuse et al. · 2013 · Archives of Clinical Neuropsychology
  70. Megalencephaly-capillary malformation syndrome
    Prashant Nigwekar, Santosh Yadav, Col. D Y Shrikhande, Bhabajyoti Bora · 2014 · Pediatric Oncall
  71. Megalencephaly–Capillary Malformation–Polymicrogyria with Cerebral Venous Thrombosis
    Olivier Fortin, Mohammed Ashour, Caroline Lacroix, Christine A. Sabapathy, Kenneth Alexis Myers · 2020 · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
  72. Malformations of Cortical Development
    Ana Filipa Geraldo, Andrea Rossi, Mariasavina Severino · 2021 · Springer eBooks
  73. The PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia
    Lilian Enríquez-Barreto, Miguel Morales · 2016 · Journal of Green Engineering
  74. Brain overgrowth associated with megalencephaly-capillary malformation syndrome causing progressive Chiari and syringomyelia
    Tom Deleu, Katrien Jansen, Frank Van Calenbergh · 2022 · Surgical Neurology International
  75. Frontiers in Hydrocephalus
    Xianli Lv, Youtu Wu, Shikai Liang · 2023 · IntechOpen eBooks
  76. PI3K/AKT Pathway and Brain Malformations
    Gavin Rice, Nitin R. Wadhwani · 2015 · Pediatric Neurology Briefs
  77. Genetic Insights into Cerebrovascular Disorders: A Comprehensive Review.
    Fawaz Al‐Mufti, Ahmed N. Alkanaq, Krishna Amuluru, Rolla Nuoman, Ahmed Abdulrazzaq, Tamarah Sami, Halla Nuoaman, Caroline Hayes-Rosen, Charles Joseph Prestigiacomo, Chirag D. Gandhi · 2017 · Europe PMC (PubMed Central)
  78. BRAFV600E Expression in Mouse Neuroglial Progenitors Increase Neuronal Excitability, Cause Appearance of Balloon-like cells, Neuronal Mislocalization, and Inflammatory Immune response
    Roman U. Goz, Ari Silas, Sara Buzel, Joseph J. LoTurco · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  79. Early post-zygotic mutations contribute to congenital heart disease
    Alexander Hsieh, Sarah U. Morton, Jon A. L. Willcox, Joshua Gorham, Angela C. Tai, Hongjian Qi, Steven R. DePalma, David M. McKean, Emily Griffin, Kathryn B. Manheimer et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
  80. Joint probabilistic modeling of pseudobulk and single-cell transcriptomics enables accurate estimation of cell type composition
    Simon Grouard, Khalil Ouardini, Yann Rodriguez, Jean‐Philippe Vert, Almudena Espín-Pérez · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  81. Next Generation Sequencing in Neurology and Psychiatry
    Krystyna Szymańska, Krzysztof Szczałuba, Anna Kostera‐Pruszczyk, Tomasz Wolańczyk · 2015 · Elsevier eBooks
  82. Mutation Detection of Phosphatidylinositol-4,5-bisphosphate 3-Kinase Catalytic Subunit Alpha for Treatment Guidance in Breast Cancer
    Willy Sandhika, Lina Patricia Gutjahr, Lusiani Tjandra · 2024 · Cancer Screening and Prevention
  83. Trastornos que afectan a la vascularización cutánea: malformaciones vasculares
    J.‐M. L'Orphelin, A. Dompmartin · 2025 · EMC - Dermatología
  84. PIK3CA -related overgrowth spectrum: From genetic mechanisms to targeted treatment with alpelisib
    Ye Jee Shim, Jang Hyuk Cho · 2025 · Journal of genetic medicine
  85. Phenotype and genotype of AKT3-related disorders
    Shimin Zhang, Qinrui Li, Zhao Xu, Jiong Qin, Zhixian Yang, Yue Niu · 2026 · Seizure
  86. CRL4AMBRA1 is a key mediator for AKT-dependent cell cycle control in neural progenitor cells
    He Wang, Panmiao Liu, Runmin Wang, Hanwen Gu, Tingting Zhu, Guiquan Chen, Jianjun Yang · 2026 · EMBO Reports
  87. Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy
    James Spyrou, Paul J. Lockhart, Snezana Maljevic, Katherine B. Howell, Christopher A. Reid · 2026 · Acta Neuropathologica
  88. Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation
    Toshiki Takenouchi, Yoshiaki Sakamoto, Chiharu Torii, Kenichiro Hata, Rika Kosaki, Kenjiro Kosaki · 2015 · American Journal of Medical Genetics Part A
  89. Utility and Challenges of Next Generation Sequencing in Pediatric Disorders
    Mauro Longoni, Giuseppe Marangi, Marcella Zollino · 2014 · Current Pediatrics Reports
  90. Malformations of Cortical Development: Genetic Aspects
    Renzo Guerrini, Elena Parrini · 2012 · Springer eBooks
  91. Diagnosis of Rare Inherited Diseases
    William G. Newman, Graeme Charles M. Black · 2014 · Royal Society of Chemistry eBooks
  92. The Phakomatoses
    Susan Huson, Bruce R. Korf · 2013 · Elsevier eBooks
  93. Nevi
    Rudolf Happle · 2013 · Springer eBooks
  94. Hydrocephalus Associated with Cerebral Malformations
    Kazuaki Shimoji, Masakazu Miyajima, Daniele Cascone, Giuseppe Cinalli, Hajime Arai · 2019 · Springer eBooks
  95. Neuronal migration disorders
    Joseph J. LoTurco, Jean‐Bernard Manent · 2020 · Elsevier eBooks
  96. An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia
    Alena Welters, Sarah M. Leiter, Nadine Bachmann, Carsten Bergmann, Henrike Hoermann, Eckhard Korsch, Thomas Meißner, Felicity Payne, Rachel M. Williams, Khalid Hussain et al. · 2023 · Orphanet Journal of Rare Diseases
  97. Neuronal Migration
    Alissa M. D’Gama, Annapurna Poduri, Joseph J. Volpe · 2024 · Elsevier eBooks
  98. PI3K-Akt-mTOR Signaling in Cancer and Cancer Therapeutics
    Sameer S. Chopra, L. Cantley · 2016 · Cancer drug discovery and develogment/Cancer drug discovery and development
  99. Human Mutations Associated With Brain Malformations Resulting in Hyperexcitability in Rodents
    Valerio Conti, Renzo Guerrini · 2017 · Elsevier eBooks
  100. Unilateral Opercular Polymicrogyria in a Girl with 22q13 Deletion Syndrome
    Laura Papetti, Fabiana Ursitti, Leonardo Pimpolari, Nicita F, Novelli A, Anna Maria Zicari, Marzia Duse, Luigi Tarani, Alberto Spalice · 2017 · International Journal of Pediatrics & Child Care